AustralieFrV1, Main, Exploration, bibRecord, 003846

Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

Identifieur interne : 003846 ( Main/Exploration ); précédent : 003845; suivant : 003847

Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

Auteurs : Nadja Ehmke [Allemagne] ; Almuth Caliebe [Allemagne] ; Rainer Koenig [Allemagne] ; Sarina G. Kant [Pays-Bas] ; Zornitza Stark [Australie] ; Valérie Cormier-Daire [France] ; Dagmar Wieczorek [Allemagne] ; Gabriele Gillessen-Kaesbach [Allemagne] ; Kirstin Hoff [Allemagne] ; Amit Kawalia [Allemagne] ; Holger Thiele [Allemagne] ; Janine Altmüller [Allemagne] ; Björn Fischer-Zirnsak [Allemagne] ; Alexej Knaus [Allemagne] ; Na Zhu [Allemagne] ; Verena Heinrich [Allemagne] ; Celine Huber [France] ; Izabela Harabula [Allemagne] ; Malte Spielmann [Allemagne] ; Denise Horn [Allemagne] ; Uwe Kornak [Allemagne] ; Jochen Hecht [Allemagne] ; Peter M. Krawitz [Allemagne] ; Peter Nürnberg [Allemagne] ; Reiner Siebert [Allemagne] ; Hermann Manzke [Allemagne] ; Stefan Mundlos [Allemagne]

Source :

American Journal of Human Genetics [ 0002-9297 ] ; 2014.

RBID : PMC:4259972

Descripteurs français

English descriptors

KwdEn :
- Adolescent, Adult, Amino Acid Sequence, Child, Preschool, Exome (genetics), Female, Hand Deformities, Congenital (enzymology), Hand Deformities, Congenital (genetics), Haplotypes, Heterozygote, Homozygote, Humans, Infant, Male, Middle Aged, Models, Molecular, Molecular Sequence Data, Mutation, Oxidoreductases (genetics), Oxidoreductases (metabolism), Pedigree, Pierre Robin Syndrome (enzymology), Pierre Robin Syndrome (genetics), Sequence Alignment, Sequence Analysis, DNA, Young Adult.
MESH :
- chemical , genetics : Oxidoreductases.
- enzymology : Hand Deformities, Congenital, Pierre Robin Syndrome.
- genetics : Exome, Hand Deformities, Congenital, Pierre Robin Syndrome.
- chemical , metabolism : Oxidoreductases.
- Adolescent, Adult, Amino Acid Sequence, Child, Preschool, Female, Haplotypes, Heterozygote, Homozygote, Humans, Infant, Male, Middle Aged, Models, Molecular, Molecular Sequence Data, Mutation, Pedigree, Sequence Alignment, Sequence Analysis, DNA, Young Adult.

Abstract

Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. We describe the identification of homozygous and compound heterozygous mutations in TGDS in seven unrelated individuals with typical Catel-Manzke syndrome by exome sequencing. Six different TGDS mutations were detected: c.892A>G (p.Asn298Asp), c.270_271del (p.Lys91Asnfs^∗22), c.298G>T (p.Ala100Ser), c.294T>G (p.Phe98Leu), c.269A>G (p.Glu90Gly), and c.700T>C (p.Tyr234His), all predicted to be disease causing. By using haplotype reconstruction we showed that the mutation c.298G>T is probably a founder mutation. Due to the spectrum of the amino acid changes, we suggest that loss of function in TGDS is the underlying mechanism of Catel-Manzke syndrome. TGDS (dTDP-D-glucose 4,6-dehydrogenase) is a conserved protein belonging to the SDR family and probably plays a role in nucleotide sugar metabolism.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259972

DOI: 10.1016/j.ajhg.2014.11.004
PubMed: 25480037
PubMed Central: 4259972

Affiliations:

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Homozygous and Compound-Heterozygous Mutations in <italic>TGDS</italic>
 Cause Catel-Manzke Syndrome</title>
<author><name sortKey="Ehmke, Nadja" sort="Ehmke, Nadja" uniqKey="Ehmke N" first="Nadja" last="Ehmke">Nadja Ehmke</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Caliebe, Almuth" sort="Caliebe, Almuth" uniqKey="Caliebe A" first="Almuth" last="Caliebe">Almuth Caliebe</name>
<affiliation wicri:level="3"><nlm:aff id="aff3">Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel</wicri:regionArea>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Koenig, Rainer" sort="Koenig, Rainer" uniqKey="Koenig R" first="Rainer" last="Koenig">Rainer Koenig</name>
<affiliation wicri:level="4"><nlm:aff id="aff4">Institute of Human Genetics, Goethe-University Frankfurt, 60590 Frankfurt am Main, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Goethe-University Frankfurt, 60590 Frankfurt am Main</wicri:regionArea>
<placeName><region type="land" nuts="1">Hesse (Land)</region>
<region type="district" nuts="2">District de Darmstadt</region>
<settlement type="city">Francfort-sur-le-Main</settlement>
<settlement type="city">Francfort-sur-le-Main</settlement>
</placeName>
<orgName type="university">Université Johann Wolfgang Goethe de Francfort-sur-le-Main</orgName>
</affiliation>
</author>
<author><name sortKey="Kant, Sarina G" sort="Kant, Sarina G" uniqKey="Kant S" first="Sarina G." last="Kant">Sarina G. Kant</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden</wicri:regionArea>
<wicri:noRegion>2300 RC Leiden</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stark, Zornitza" sort="Stark, Zornitza" uniqKey="Stark Z" first="Zornitza" last="Stark">Zornitza Stark</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">Victorian Clinical Genetics Service, Murdoch Children’s Research Institute, Parkville, VIC 3052, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Victorian Clinical Genetics Service, Murdoch Children’s Research Institute, Parkville, VIC 3052</wicri:regionArea>
<wicri:noRegion>VIC 3052</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne PARIS Cité, Imagine Institute, Hôpital Necker Enfants Males, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne PARIS Cité, Imagine Institute, Hôpital Necker Enfants Males, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name>
<affiliation wicri:level="1"><nlm:aff id="aff8">Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen</wicri:regionArea>
<wicri:noRegion>45122 Essen</wicri:noRegion>
<wicri:noRegion>45122 Essen</wicri:noRegion>
<wicri:noRegion>45122 Essen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name>
<affiliation wicri:level="1"><nlm:aff id="aff9">Institut für Humangenetik, Universität zu Lübeck, 23538 Lübeck, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universität zu Lübeck, 23538 Lübeck</wicri:regionArea>
<wicri:noRegion>23538 Lübeck</wicri:noRegion>
<wicri:noRegion>23538 Lübeck</wicri:noRegion>
<wicri:noRegion>23538 Lübeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hoff, Kirstin" sort="Hoff, Kirstin" uniqKey="Hoff K" first="Kirstin" last="Hoff">Kirstin Hoff</name>
<affiliation wicri:level="3"><nlm:aff id="aff3">Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel</wicri:regionArea>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff10">Department of Congenital Heart Disease and Pediatric Cardiology, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Congenital Heart Disease and Pediatric Cardiology, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel</wicri:regionArea>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff11">DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, 24105 Kiel, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, 24105 Kiel</wicri:regionArea>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kawalia, Amit" sort="Kawalia, Amit" uniqKey="Kawalia A" first="Amit" last="Kawalia">Amit Kawalia</name>
<affiliation wicri:level="3"><nlm:aff id="aff12">Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Thiele, Holger" sort="Thiele, Holger" uniqKey="Thiele H" first="Holger" last="Thiele">Holger Thiele</name>
<affiliation wicri:level="3"><nlm:aff id="aff12">Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Altmuller, Janine" sort="Altmuller, Janine" uniqKey="Altmuller J" first="Janine" last="Altmüller">Janine Altmüller</name>
<affiliation wicri:level="3"><nlm:aff id="aff12">Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff13">Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, University of Cologne, 50931 Cologne</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fischer Zirnsak, Bjorn" sort="Fischer Zirnsak, Bjorn" uniqKey="Fischer Zirnsak B" first="Björn" last="Fischer-Zirnsak">Björn Fischer-Zirnsak</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute for Molecular Genetics, 14195 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Knaus, Alexej" sort="Knaus, Alexej" uniqKey="Knaus A" first="Alexej" last="Knaus">Alexej Knaus</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute for Molecular Genetics, 14195 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zhu, Na" sort="Zhu, Na" uniqKey="Zhu N" first="Na" last="Zhu">Na Zhu</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Heinrich, Verena" sort="Heinrich, Verena" uniqKey="Heinrich V" first="Verena" last="Heinrich">Verena Heinrich</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Huber, Celine" sort="Huber, Celine" uniqKey="Huber C" first="Celine" last="Huber">Celine Huber</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne PARIS Cité, Imagine Institute, Hôpital Necker Enfants Males, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne PARIS Cité, Imagine Institute, Hôpital Necker Enfants Males, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Harabula, Izabela" sort="Harabula, Izabela" uniqKey="Harabula I" first="Izabela" last="Harabula">Izabela Harabula</name>
<affiliation wicri:level="3"><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute for Molecular Genetics, 14195 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Spielmann, Malte" sort="Spielmann, Malte" uniqKey="Spielmann M" first="Malte" last="Spielmann">Malte Spielmann</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute for Molecular Genetics, 14195 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Horn, Denise" sort="Horn, Denise" uniqKey="Horn D" first="Denise" last="Horn">Denise Horn</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kornak, Uwe" sort="Kornak, Uwe" uniqKey="Kornak U" first="Uwe" last="Kornak">Uwe Kornak</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute for Molecular Genetics, 14195 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hecht, Jochen" sort="Hecht, Jochen" uniqKey="Hecht J" first="Jochen" last="Hecht">Jochen Hecht</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute for Molecular Genetics, 14195 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Krawitz, Peter M" sort="Krawitz, Peter M" uniqKey="Krawitz P" first="Peter M." last="Krawitz">Peter M. Krawitz</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute for Molecular Genetics, 14195 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name>
<affiliation wicri:level="3"><nlm:aff id="aff12">Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff15">Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff16">Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Siebert, Reiner" sort="Siebert, Reiner" uniqKey="Siebert R" first="Reiner" last="Siebert">Reiner Siebert</name>
<affiliation wicri:level="3"><nlm:aff id="aff3">Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel</wicri:regionArea>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Manzke, Hermann" sort="Manzke, Hermann" uniqKey="Manzke H" first="Hermann" last="Manzke">Hermann Manzke</name>
<affiliation wicri:level="1"><nlm:aff id="aff17">Private, 24226 Heikendorf, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Private, 24226 Heikendorf</wicri:regionArea>
<wicri:noRegion>24226 Heikendorf</wicri:noRegion>
<wicri:noRegion>24226 Heikendorf</wicri:noRegion>
<wicri:noRegion>24226 Heikendorf</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mundlos, Stefan" sort="Mundlos, Stefan" uniqKey="Mundlos S" first="Stefan" last="Mundlos">Stefan Mundlos</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute for Molecular Genetics, 14195 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">25480037</idno>
<idno type="pmc">4259972</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259972</idno>
<idno type="RBID">PMC:4259972</idno>
<idno type="doi">10.1016/j.ajhg.2014.11.004</idno>
<date when="2014">2014</date>
<idno type="wicri:Area/Pmc/Corpus">001211</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001211</idno>
<idno type="wicri:Area/Pmc/Curation">001072</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001072</idno>
<idno type="wicri:Area/Pmc/Checkpoint">001534</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001534</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="wicri:Area/PubMed/Corpus">003246</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003246</idno>
<idno type="wicri:Area/PubMed/Curation">003136</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">003136</idno>
<idno type="wicri:Area/PubMed/Checkpoint">003136</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">003136</idno>
<idno type="wicri:Area/Ncbi/Merge">002074</idno>
<idno type="wicri:Area/Ncbi/Curation">002074</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">002074</idno>
<idno type="wicri:doubleKey">0002-9297:2014:Ehmke N:homozygous:and:compound</idno>
<idno type="wicri:Area/Main/Merge">003881</idno>
<idno type="wicri:Area/Main/Curation">003846</idno>
<idno type="wicri:Area/Main/Exploration">003846</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Homozygous and Compound-Heterozygous Mutations in <italic>TGDS</italic>
 Cause Catel-Manzke Syndrome</title>
<author><name sortKey="Ehmke, Nadja" sort="Ehmke, Nadja" uniqKey="Ehmke N" first="Nadja" last="Ehmke">Nadja Ehmke</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Caliebe, Almuth" sort="Caliebe, Almuth" uniqKey="Caliebe A" first="Almuth" last="Caliebe">Almuth Caliebe</name>
<affiliation wicri:level="3"><nlm:aff id="aff3">Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel</wicri:regionArea>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Koenig, Rainer" sort="Koenig, Rainer" uniqKey="Koenig R" first="Rainer" last="Koenig">Rainer Koenig</name>
<affiliation wicri:level="4"><nlm:aff id="aff4">Institute of Human Genetics, Goethe-University Frankfurt, 60590 Frankfurt am Main, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Goethe-University Frankfurt, 60590 Frankfurt am Main</wicri:regionArea>
<placeName><region type="land" nuts="1">Hesse (Land)</region>
<region type="district" nuts="2">District de Darmstadt</region>
<settlement type="city">Francfort-sur-le-Main</settlement>
<settlement type="city">Francfort-sur-le-Main</settlement>
</placeName>
<orgName type="university">Université Johann Wolfgang Goethe de Francfort-sur-le-Main</orgName>
</affiliation>
</author>
<author><name sortKey="Kant, Sarina G" sort="Kant, Sarina G" uniqKey="Kant S" first="Sarina G." last="Kant">Sarina G. Kant</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden</wicri:regionArea>
<wicri:noRegion>2300 RC Leiden</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stark, Zornitza" sort="Stark, Zornitza" uniqKey="Stark Z" first="Zornitza" last="Stark">Zornitza Stark</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">Victorian Clinical Genetics Service, Murdoch Children’s Research Institute, Parkville, VIC 3052, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Victorian Clinical Genetics Service, Murdoch Children’s Research Institute, Parkville, VIC 3052</wicri:regionArea>
<wicri:noRegion>VIC 3052</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne PARIS Cité, Imagine Institute, Hôpital Necker Enfants Males, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne PARIS Cité, Imagine Institute, Hôpital Necker Enfants Males, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name>
<affiliation wicri:level="1"><nlm:aff id="aff8">Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen</wicri:regionArea>
<wicri:noRegion>45122 Essen</wicri:noRegion>
<wicri:noRegion>45122 Essen</wicri:noRegion>
<wicri:noRegion>45122 Essen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name>
<affiliation wicri:level="1"><nlm:aff id="aff9">Institut für Humangenetik, Universität zu Lübeck, 23538 Lübeck, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universität zu Lübeck, 23538 Lübeck</wicri:regionArea>
<wicri:noRegion>23538 Lübeck</wicri:noRegion>
<wicri:noRegion>23538 Lübeck</wicri:noRegion>
<wicri:noRegion>23538 Lübeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hoff, Kirstin" sort="Hoff, Kirstin" uniqKey="Hoff K" first="Kirstin" last="Hoff">Kirstin Hoff</name>
<affiliation wicri:level="3"><nlm:aff id="aff3">Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel</wicri:regionArea>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff10">Department of Congenital Heart Disease and Pediatric Cardiology, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Congenital Heart Disease and Pediatric Cardiology, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel</wicri:regionArea>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff11">DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, 24105 Kiel, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, 24105 Kiel</wicri:regionArea>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kawalia, Amit" sort="Kawalia, Amit" uniqKey="Kawalia A" first="Amit" last="Kawalia">Amit Kawalia</name>
<affiliation wicri:level="3"><nlm:aff id="aff12">Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Thiele, Holger" sort="Thiele, Holger" uniqKey="Thiele H" first="Holger" last="Thiele">Holger Thiele</name>
<affiliation wicri:level="3"><nlm:aff id="aff12">Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Altmuller, Janine" sort="Altmuller, Janine" uniqKey="Altmuller J" first="Janine" last="Altmüller">Janine Altmüller</name>
<affiliation wicri:level="3"><nlm:aff id="aff12">Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff13">Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, University of Cologne, 50931 Cologne</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fischer Zirnsak, Bjorn" sort="Fischer Zirnsak, Bjorn" uniqKey="Fischer Zirnsak B" first="Björn" last="Fischer-Zirnsak">Björn Fischer-Zirnsak</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute for Molecular Genetics, 14195 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Knaus, Alexej" sort="Knaus, Alexej" uniqKey="Knaus A" first="Alexej" last="Knaus">Alexej Knaus</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute for Molecular Genetics, 14195 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zhu, Na" sort="Zhu, Na" uniqKey="Zhu N" first="Na" last="Zhu">Na Zhu</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Heinrich, Verena" sort="Heinrich, Verena" uniqKey="Heinrich V" first="Verena" last="Heinrich">Verena Heinrich</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Huber, Celine" sort="Huber, Celine" uniqKey="Huber C" first="Celine" last="Huber">Celine Huber</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne PARIS Cité, Imagine Institute, Hôpital Necker Enfants Males, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne PARIS Cité, Imagine Institute, Hôpital Necker Enfants Males, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Harabula, Izabela" sort="Harabula, Izabela" uniqKey="Harabula I" first="Izabela" last="Harabula">Izabela Harabula</name>
<affiliation wicri:level="3"><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute for Molecular Genetics, 14195 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Spielmann, Malte" sort="Spielmann, Malte" uniqKey="Spielmann M" first="Malte" last="Spielmann">Malte Spielmann</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute for Molecular Genetics, 14195 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Horn, Denise" sort="Horn, Denise" uniqKey="Horn D" first="Denise" last="Horn">Denise Horn</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kornak, Uwe" sort="Kornak, Uwe" uniqKey="Kornak U" first="Uwe" last="Kornak">Uwe Kornak</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute for Molecular Genetics, 14195 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hecht, Jochen" sort="Hecht, Jochen" uniqKey="Hecht J" first="Jochen" last="Hecht">Jochen Hecht</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute for Molecular Genetics, 14195 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Krawitz, Peter M" sort="Krawitz, Peter M" uniqKey="Krawitz P" first="Peter M." last="Krawitz">Peter M. Krawitz</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute for Molecular Genetics, 14195 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name>
<affiliation wicri:level="3"><nlm:aff id="aff12">Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff15">Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff16">Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Siebert, Reiner" sort="Siebert, Reiner" uniqKey="Siebert R" first="Reiner" last="Siebert">Reiner Siebert</name>
<affiliation wicri:level="3"><nlm:aff id="aff3">Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel</wicri:regionArea>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Manzke, Hermann" sort="Manzke, Hermann" uniqKey="Manzke H" first="Hermann" last="Manzke">Hermann Manzke</name>
<affiliation wicri:level="1"><nlm:aff id="aff17">Private, 24226 Heikendorf, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Private, 24226 Heikendorf</wicri:regionArea>
<wicri:noRegion>24226 Heikendorf</wicri:noRegion>
<wicri:noRegion>24226 Heikendorf</wicri:noRegion>
<wicri:noRegion>24226 Heikendorf</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mundlos, Stefan" sort="Mundlos, Stefan" uniqKey="Mundlos S" first="Stefan" last="Mundlos">Stefan Mundlos</name>
<affiliation wicri:level="3"><nlm:aff id="aff1">Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff2">Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff14">Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute for Molecular Genetics, 14195 Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Amino Acid Sequence</term>
<term>Child, Preschool</term>
<term>Exome (genetics)</term>
<term>Female</term>
<term>Hand Deformities, Congenital (enzymology)</term>
<term>Hand Deformities, Congenital (genetics)</term>
<term>Haplotypes</term>
<term>Heterozygote</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Infant</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Models, Molecular</term>
<term>Molecular Sequence Data</term>
<term>Mutation</term>
<term>Oxidoreductases (genetics)</term>
<term>Oxidoreductases (metabolism)</term>
<term>Pedigree</term>
<term>Pierre Robin Syndrome (enzymology)</term>
<term>Pierre Robin Syndrome (genetics)</term>
<term>Sequence Alignment</term>
<term>Sequence Analysis, DNA</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Alignement de séquences</term>
<term>Analyse de séquence d'ADN</term>
<term>Anomalies morphologiques congénitales de la main (enzymologie)</term>
<term>Anomalies morphologiques congénitales de la main (génétique)</term>
<term>Données de séquences moléculaires</term>
<term>Enfant d'âge préscolaire</term>
<term>Exome (génétique)</term>
<term>Femelle</term>
<term>Haplotypes</term>
<term>Homozygote</term>
<term>Humains</term>
<term>Hétérozygote</term>
<term>Jeune adulte</term>
<term>Modèles moléculaires</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Oxidoreductases (génétique)</term>
<term>Oxidoreductases (métabolisme)</term>
<term>Pedigree</term>
<term>Syndrome de Pierre Robin (enzymologie)</term>
<term>Syndrome de Pierre Robin (génétique)</term>
<term>Séquence d'acides aminés</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Oxidoreductases</term>
</keywords>
<keywords scheme="MESH" qualifier="enzymologie" xml:lang="fr"><term>Anomalies morphologiques congénitales de la main</term>
<term>Syndrome de Pierre Robin</term>
</keywords>
<keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Hand Deformities, Congenital</term>
<term>Pierre Robin Syndrome</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exome</term>
<term>Hand Deformities, Congenital</term>
<term>Pierre Robin Syndrome</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Anomalies morphologiques congénitales de la main</term>
<term>Exome</term>
<term>Oxidoreductases</term>
<term>Syndrome de Pierre Robin</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Oxidoreductases</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Oxidoreductases</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Amino Acid Sequence</term>
<term>Child, Preschool</term>
<term>Female</term>
<term>Haplotypes</term>
<term>Heterozygote</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Infant</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Models, Molecular</term>
<term>Molecular Sequence Data</term>
<term>Mutation</term>
<term>Pedigree</term>
<term>Sequence Alignment</term>
<term>Sequence Analysis, DNA</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Alignement de séquences</term>
<term>Analyse de séquence d'ADN</term>
<term>Données de séquences moléculaires</term>
<term>Enfant d'âge préscolaire</term>
<term>Femelle</term>
<term>Haplotypes</term>
<term>Homozygote</term>
<term>Humains</term>
<term>Hétérozygote</term>
<term>Jeune adulte</term>
<term>Modèles moléculaires</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Pedigree</term>
<term>Séquence d'acides aminés</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. We describe the identification of homozygous and compound heterozygous mutations in <italic>TGDS</italic>
 in seven unrelated individuals with typical Catel-Manzke syndrome by exome sequencing. Six different <italic>TGDS</italic>
 mutations were detected: c.892A>G (p.Asn298Asp), c.270_271del (p.Lys91Asnfs<sup>∗</sup>
22), c.298G>T (p.Ala100Ser), c.294T>G (p.Phe98Leu), c.269A>G (p.Glu90Gly), and c.700T>C (p.Tyr234His), all predicted to be disease causing. By using haplotype reconstruction we showed that the mutation c.298G>T is probably a founder mutation. Due to the spectrum of the amino acid changes, we suggest that loss of function in TGDS is the underlying mechanism of Catel-Manzke syndrome. TGDS (dTDP-D-glucose 4,6-dehydrogenase) is a conserved protein belonging to the SDR family and probably plays a role in nucleotide sugar metabolism.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>France</li>
<li>Pays-Bas</li>
</country>
<region><li>Berlin</li>
<li>District de Cologne</li>
<li>District de Darmstadt</li>
<li>Hesse (Land)</li>
<li>Rhénanie-du-Nord-Westphalie</li>
<li>Schleswig-Holstein</li>
<li>Île-de-France</li>
</region>
<settlement><li>Berlin</li>
<li>Cologne</li>
<li>Francfort-sur-le-Main</li>
<li>Kiel</li>
<li>Paris</li>
</settlement>
<orgName><li>Université Johann Wolfgang Goethe de Francfort-sur-le-Main</li>
</orgName>
</list>
<tree><country name="Allemagne"><region name="Berlin"><name sortKey="Ehmke, Nadja" sort="Ehmke, Nadja" uniqKey="Ehmke N" first="Nadja" last="Ehmke">Nadja Ehmke</name>
</region>
<name sortKey="Altmuller, Janine" sort="Altmuller, Janine" uniqKey="Altmuller J" first="Janine" last="Altmüller">Janine Altmüller</name>
<name sortKey="Altmuller, Janine" sort="Altmuller, Janine" uniqKey="Altmuller J" first="Janine" last="Altmüller">Janine Altmüller</name>
<name sortKey="Caliebe, Almuth" sort="Caliebe, Almuth" uniqKey="Caliebe A" first="Almuth" last="Caliebe">Almuth Caliebe</name>
<name sortKey="Ehmke, Nadja" sort="Ehmke, Nadja" uniqKey="Ehmke N" first="Nadja" last="Ehmke">Nadja Ehmke</name>
<name sortKey="Fischer Zirnsak, Bjorn" sort="Fischer Zirnsak, Bjorn" uniqKey="Fischer Zirnsak B" first="Björn" last="Fischer-Zirnsak">Björn Fischer-Zirnsak</name>
<name sortKey="Fischer Zirnsak, Bjorn" sort="Fischer Zirnsak, Bjorn" uniqKey="Fischer Zirnsak B" first="Björn" last="Fischer-Zirnsak">Björn Fischer-Zirnsak</name>
<name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name>
<name sortKey="Harabula, Izabela" sort="Harabula, Izabela" uniqKey="Harabula I" first="Izabela" last="Harabula">Izabela Harabula</name>
<name sortKey="Hecht, Jochen" sort="Hecht, Jochen" uniqKey="Hecht J" first="Jochen" last="Hecht">Jochen Hecht</name>
<name sortKey="Hecht, Jochen" sort="Hecht, Jochen" uniqKey="Hecht J" first="Jochen" last="Hecht">Jochen Hecht</name>
<name sortKey="Hecht, Jochen" sort="Hecht, Jochen" uniqKey="Hecht J" first="Jochen" last="Hecht">Jochen Hecht</name>
<name sortKey="Heinrich, Verena" sort="Heinrich, Verena" uniqKey="Heinrich V" first="Verena" last="Heinrich">Verena Heinrich</name>
<name sortKey="Hoff, Kirstin" sort="Hoff, Kirstin" uniqKey="Hoff K" first="Kirstin" last="Hoff">Kirstin Hoff</name>
<name sortKey="Hoff, Kirstin" sort="Hoff, Kirstin" uniqKey="Hoff K" first="Kirstin" last="Hoff">Kirstin Hoff</name>
<name sortKey="Hoff, Kirstin" sort="Hoff, Kirstin" uniqKey="Hoff K" first="Kirstin" last="Hoff">Kirstin Hoff</name>
<name sortKey="Horn, Denise" sort="Horn, Denise" uniqKey="Horn D" first="Denise" last="Horn">Denise Horn</name>
<name sortKey="Kawalia, Amit" sort="Kawalia, Amit" uniqKey="Kawalia A" first="Amit" last="Kawalia">Amit Kawalia</name>
<name sortKey="Knaus, Alexej" sort="Knaus, Alexej" uniqKey="Knaus A" first="Alexej" last="Knaus">Alexej Knaus</name>
<name sortKey="Knaus, Alexej" sort="Knaus, Alexej" uniqKey="Knaus A" first="Alexej" last="Knaus">Alexej Knaus</name>
<name sortKey="Koenig, Rainer" sort="Koenig, Rainer" uniqKey="Koenig R" first="Rainer" last="Koenig">Rainer Koenig</name>
<name sortKey="Kornak, Uwe" sort="Kornak, Uwe" uniqKey="Kornak U" first="Uwe" last="Kornak">Uwe Kornak</name>
<name sortKey="Kornak, Uwe" sort="Kornak, Uwe" uniqKey="Kornak U" first="Uwe" last="Kornak">Uwe Kornak</name>
<name sortKey="Kornak, Uwe" sort="Kornak, Uwe" uniqKey="Kornak U" first="Uwe" last="Kornak">Uwe Kornak</name>
<name sortKey="Krawitz, Peter M" sort="Krawitz, Peter M" uniqKey="Krawitz P" first="Peter M." last="Krawitz">Peter M. Krawitz</name>
<name sortKey="Krawitz, Peter M" sort="Krawitz, Peter M" uniqKey="Krawitz P" first="Peter M." last="Krawitz">Peter M. Krawitz</name>
<name sortKey="Krawitz, Peter M" sort="Krawitz, Peter M" uniqKey="Krawitz P" first="Peter M." last="Krawitz">Peter M. Krawitz</name>
<name sortKey="Manzke, Hermann" sort="Manzke, Hermann" uniqKey="Manzke H" first="Hermann" last="Manzke">Hermann Manzke</name>
<name sortKey="Mundlos, Stefan" sort="Mundlos, Stefan" uniqKey="Mundlos S" first="Stefan" last="Mundlos">Stefan Mundlos</name>
<name sortKey="Mundlos, Stefan" sort="Mundlos, Stefan" uniqKey="Mundlos S" first="Stefan" last="Mundlos">Stefan Mundlos</name>
<name sortKey="Mundlos, Stefan" sort="Mundlos, Stefan" uniqKey="Mundlos S" first="Stefan" last="Mundlos">Stefan Mundlos</name>
<name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name>
<name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name>
<name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name>
<name sortKey="Siebert, Reiner" sort="Siebert, Reiner" uniqKey="Siebert R" first="Reiner" last="Siebert">Reiner Siebert</name>
<name sortKey="Spielmann, Malte" sort="Spielmann, Malte" uniqKey="Spielmann M" first="Malte" last="Spielmann">Malte Spielmann</name>
<name sortKey="Spielmann, Malte" sort="Spielmann, Malte" uniqKey="Spielmann M" first="Malte" last="Spielmann">Malte Spielmann</name>
<name sortKey="Thiele, Holger" sort="Thiele, Holger" uniqKey="Thiele H" first="Holger" last="Thiele">Holger Thiele</name>
<name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name>
<name sortKey="Zhu, Na" sort="Zhu, Na" uniqKey="Zhu N" first="Na" last="Zhu">Na Zhu</name>
</country>
<country name="Pays-Bas"><noRegion><name sortKey="Kant, Sarina G" sort="Kant, Sarina G" uniqKey="Kant S" first="Sarina G." last="Kant">Sarina G. Kant</name>
</noRegion>
</country>
<country name="Australie"><noRegion><name sortKey="Stark, Zornitza" sort="Stark, Zornitza" uniqKey="Stark Z" first="Zornitza" last="Stark">Zornitza Stark</name>
</noRegion>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
</region>
<name sortKey="Huber, Celine" sort="Huber, Celine" uniqKey="Huber C" first="Celine" last="Huber">Celine Huber</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003846 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 003846 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     PMC:4259972
   |texte=   Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i   -Sk "pubmed:25480037" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd   \
       | NlmPubMed2Wicri -a AustralieFrV1

This area was generated with Dilib version V0.6.33.
Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024

Serveur d'exploration sur les relations entre la France et l'Australie

Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur les relations entre la France et l'Australie
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.