AustralieFrV1, Main, Exploration, bibRecord, 001662

Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?

Identifieur interne : 001662 ( Main/Exploration ); précédent : 001661; suivant : 001663

Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?

Auteurs : André Mégarbané [France] ; Rashid Al-Ali [Qatar] ; Nancy Choucair [France] ; Monko Lek [États-Unis] ; Ena Wang [Qatar] ; Moncef Ladjimi [Qatar] ; Catherine M. Rose ; Remy Hobeika [France] ; Yvette Macary [France] ; Ramzi Temanni [Qatar] ; Puthen V. Jithesh [Qatar] ; Aouatef Chouchane [Qatar] ; Konduru S. Sastry [Qatar] ; Remy Thomas [Qatar] ; Sara Tomei [Qatar] ; Wei Liu [Qatar] ; Francesco M. Marincola [Qatar] ; Daniel Macarthur [États-Unis] ; Lotfi Chouchane [Qatar]

Source :

BMC Medical Genetics [ 1471-2350 ] ; 2016.

RBID : PMC:4901505

Descripteurs français

KwdFr :
- ADN (), ADN (isolement et purification), ADN (métabolisme), Analyse de mutations d'ADN, Anomalies morphologiques congénitales de la main (diagnostic), Anomalies morphologiques congénitales de la main (génétique), Canaux potassiques éther-à-go-go (génétique), Déficience intellectuelle (diagnostic), Déficience intellectuelle (génétique), Fibromatose gingivale (diagnostic), Fibromatose gingivale (génétique), Hallux (malformations), Humains, Malformations crâniofaciales (diagnostic), Malformations crâniofaciales (génétique), Malformations multiples (diagnostic), Malformations multiples (génétique), Mutation faux-sens, Mâle, Nourrisson, Ongles malformés (diagnostic), Ongles malformés (génétique), Orteils (imagerie diagnostique), Pouce (imagerie diagnostique), Pouce (malformations), Protein-Serine-Threonine Kinases (génétique).
MESH :
- diagnostic : Anomalies morphologiques congénitales de la main, Déficience intellectuelle, Fibromatose gingivale, Malformations crâniofaciales, Malformations multiples, Ongles malformés.
- génétique : Anomalies morphologiques congénitales de la main, Canaux potassiques éther-à-go-go, Déficience intellectuelle, Fibromatose gingivale, Malformations crâniofaciales, Malformations multiples, Ongles malformés, Protein-Serine-Threonine Kinases.
- imagerie diagnostique : Orteils, Pouce.
- isolement et purification : ADN.
- malformations : Hallux, Pouce.
- métabolisme : ADN.
- ADN, Analyse de mutations d'ADN, Humains, Mutation faux-sens, Mâle, Nourrisson.

English descriptors

KwdEn :
- Abnormalities, Multiple (diagnosis), Abnormalities, Multiple (genetics), Craniofacial Abnormalities (diagnosis), Craniofacial Abnormalities (genetics), DNA (chemistry), DNA (isolation & purification), DNA (metabolism), DNA Mutational Analysis, Ether-A-Go-Go Potassium Channels (genetics), Fibromatosis, Gingival (diagnosis), Fibromatosis, Gingival (genetics), Hallux (abnormalities), Hand Deformities, Congenital (diagnosis), Hand Deformities, Congenital (genetics), Humans, Infant, Intellectual Disability (diagnosis), Intellectual Disability (genetics), Male, Mutation, Missense, Nails, Malformed (diagnosis), Nails, Malformed (genetics), Protein-Serine-Threonine Kinases (genetics), Thumb (abnormalities), Thumb (diagnostic imaging), Toes (diagnostic imaging).
MESH :
- chemical , chemistry : DNA.
- abnormalities : Hallux, Thumb.
- diagnosis : Abnormalities, Multiple, Craniofacial Abnormalities, Fibromatosis, Gingival, Hand Deformities, Congenital, Intellectual Disability, Nails, Malformed.
- diagnostic imaging : Thumb, Toes.
- genetics : Abnormalities, Multiple, Craniofacial Abnormalities, Ether-A-Go-Go Potassium Channels, Fibromatosis, Gingival, Hand Deformities, Congenital, Intellectual Disability, Nails, Malformed, Protein-Serine-Threonine Kinases.
- chemical , isolation & purification : DNA.
- chemical , metabolism : DNA.
- DNA Mutational Analysis, Humans, Infant, Male, Mutation, Missense.

Abstract

Background

KCNH1 encodes a voltage-gated potassium channel that is predominantly expressed in the central nervous system. Mutations in this gene were recently found to be responsible for Temple-Baraitser Syndrome (TMBTS) and Zimmermann-Laband syndrome (ZLS).

Methods

Here, we report a new case of TMBTS diagnosed in a Lebanese child. Whole genome sequencing was carried out on DNA samples of the proband and his parents to identify mutations associated with this disease. Sanger sequencing was performed to confirm the presence of detected variants.

Results

Whole genome sequencing revealed three missense mutations in TMBTS patient: c.1042G > A in KCNH1, c.2131 T > C in STK36, and c.726C > A in ZNF517. According to all predictors, mutation in KCNH1 is damaging de novo mutation that results in substitution of Glycine by Arginine, i.e., p.(Gly348Arg). This mutation was already reported in a patient with ZLS that could affect the connecting loop between helices S4-S5 of KCNH1 with a gain of function effect.

Conclusions

Our findings demonstrate that KCNH1 mutations cause TMBTS and expand the mutational spectrum of KCNH1 in TMBTS. In addition, all cases of TMBTS were reviewed and compared to ZLS. We suggest that the two syndromes are a continuum and that the variability in the phenotypes is the result of the involvement of genetic modifiers.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4901505

DOI: 10.1186/s12881-016-0304-4
PubMed: 27282200
PubMed Central: 4901505

Affiliations:

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?</title>
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<author><name sortKey="Al Ali, Rashid" sort="Al Ali, Rashid" uniqKey="Al Ali R" first="Rashid" last="Al-Ali">Rashid Al-Ali</name>
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<author><name sortKey="Choucair, Nancy" sort="Choucair, Nancy" uniqKey="Choucair N" first="Nancy" last="Choucair">Nancy Choucair</name>
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<author><name sortKey="Lek, Monko" sort="Lek, Monko" uniqKey="Lek M" first="Monko" last="Lek">Monko Lek</name>
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<author><name sortKey="Ladjimi, Moncef" sort="Ladjimi, Moncef" uniqKey="Ladjimi M" first="Moncef" last="Ladjimi">Moncef Ladjimi</name>
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<author><name sortKey="Rose, Catherine M" sort="Rose, Catherine M" uniqKey="Rose C" first="Catherine M." last="Rose">Catherine M. Rose</name>
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<author><name sortKey="Hobeika, Remy" sort="Hobeika, Remy" uniqKey="Hobeika R" first="Remy" last="Hobeika">Remy Hobeika</name>
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<author><name sortKey="Macary, Yvette" sort="Macary, Yvette" uniqKey="Macary Y" first="Yvette" last="Macary">Yvette Macary</name>
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<author><name sortKey="Temanni, Ramzi" sort="Temanni, Ramzi" uniqKey="Temanni R" first="Ramzi" last="Temanni">Ramzi Temanni</name>
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<author><name sortKey="Jithesh, Puthen V" sort="Jithesh, Puthen V" uniqKey="Jithesh P" first="Puthen V." last="Jithesh">Puthen V. Jithesh</name>
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<author><name sortKey="Chouchane, Aouatef" sort="Chouchane, Aouatef" uniqKey="Chouchane A" first="Aouatef" last="Chouchane">Aouatef Chouchane</name>
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</author>
<author><name sortKey="Sastry, Konduru S" sort="Sastry, Konduru S" uniqKey="Sastry K" first="Konduru S" last="Sastry">Konduru S. Sastry</name>
<affiliation wicri:level="1"><nlm:aff id="Aff7">Dermatology Research Group, Translational Medicine Division, Sidra Medical & Research Center, Doha, Qatar</nlm:aff>
<country xml:lang="fr">Qatar</country>
<wicri:regionArea>Dermatology Research Group, Translational Medicine Division, Sidra Medical & Research Center, Doha</wicri:regionArea>
<wicri:noRegion>Doha</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Thomas, Remy" sort="Thomas, Remy" uniqKey="Thomas R" first="Remy" last="Thomas">Remy Thomas</name>
<affiliation wicri:level="1"><nlm:aff id="Aff8">Laboratory of Genetic Medicine and Immunology, Weill Cornell Medicine-Qatar, Education City, Qatar Foundation, Doha, Qatar</nlm:aff>
<country xml:lang="fr">Qatar</country>
<wicri:regionArea>Laboratory of Genetic Medicine and Immunology, Weill Cornell Medicine-Qatar, Education City, Qatar Foundation, Doha</wicri:regionArea>
<wicri:noRegion>Doha</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tomei, Sara" sort="Tomei, Sara" uniqKey="Tomei S" first="Sara" last="Tomei">Sara Tomei</name>
<affiliation wicri:level="1"><nlm:aff id="Aff4">Genomics Core Laboratory, Translational Medicine Division, Sidra Medical & Research Center, Doha, Qatar</nlm:aff>
<country xml:lang="fr">Qatar</country>
<wicri:regionArea>Genomics Core Laboratory, Translational Medicine Division, Sidra Medical & Research Center, Doha</wicri:regionArea>
<wicri:noRegion>Doha</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Liu, Wei" sort="Liu, Wei" uniqKey="Liu W" first="Wei" last="Liu">Wei Liu</name>
<affiliation wicri:level="1"><nlm:aff id="Aff4">Genomics Core Laboratory, Translational Medicine Division, Sidra Medical & Research Center, Doha, Qatar</nlm:aff>
<country xml:lang="fr">Qatar</country>
<wicri:regionArea>Genomics Core Laboratory, Translational Medicine Division, Sidra Medical & Research Center, Doha</wicri:regionArea>
<wicri:noRegion>Doha</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Marincola, Francesco M" sort="Marincola, Francesco M" uniqKey="Marincola F" first="Francesco M." last="Marincola">Francesco M. Marincola</name>
<affiliation wicri:level="1"><nlm:aff id="Aff9">Research Office, Sidra Medical & Research Center, Doha, Qatar</nlm:aff>
<country xml:lang="fr">Qatar</country>
<wicri:regionArea>Research Office, Sidra Medical & Research Center, Doha</wicri:regionArea>
<wicri:noRegion>Doha</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Macarthur, Daniel" sort="Macarthur, Daniel" uniqKey="Macarthur D" first="Daniel" last="Macarthur">Daniel Macarthur</name>
<affiliation wicri:level="3"><nlm:aff id="Aff3">Medical and Population Genetics, Broad Institute of Harvard Medical School, Boston, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Medical and Population Genetics, Broad Institute of Harvard Medical School, Boston</wicri:regionArea>
<placeName><settlement type="city">Boston</settlement>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chouchane, Lotfi" sort="Chouchane, Lotfi" uniqKey="Chouchane L" first="Lotfi" last="Chouchane">Lotfi Chouchane</name>
<affiliation wicri:level="1"><nlm:aff id="Aff8">Laboratory of Genetic Medicine and Immunology, Weill Cornell Medicine-Qatar, Education City, Qatar Foundation, Doha, Qatar</nlm:aff>
<country xml:lang="fr">Qatar</country>
<wicri:regionArea>Laboratory of Genetic Medicine and Immunology, Weill Cornell Medicine-Qatar, Education City, Qatar Foundation, Doha</wicri:regionArea>
<wicri:noRegion>Doha</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">BMC Medical Genetics</title>
<idno type="eISSN">1471-2350</idno>
<imprint><date when="2016">2016</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (diagnosis)</term>
<term>Abnormalities, Multiple (genetics)</term>
<term>Craniofacial Abnormalities (diagnosis)</term>
<term>Craniofacial Abnormalities (genetics)</term>
<term>DNA (chemistry)</term>
<term>DNA (isolation & purification)</term>
<term>DNA (metabolism)</term>
<term>DNA Mutational Analysis</term>
<term>Ether-A-Go-Go Potassium Channels (genetics)</term>
<term>Fibromatosis, Gingival (diagnosis)</term>
<term>Fibromatosis, Gingival (genetics)</term>
<term>Hallux (abnormalities)</term>
<term>Hand Deformities, Congenital (diagnosis)</term>
<term>Hand Deformities, Congenital (genetics)</term>
<term>Humans</term>
<term>Infant</term>
<term>Intellectual Disability (diagnosis)</term>
<term>Intellectual Disability (genetics)</term>
<term>Male</term>
<term>Mutation, Missense</term>
<term>Nails, Malformed (diagnosis)</term>
<term>Nails, Malformed (genetics)</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>Thumb (abnormalities)</term>
<term>Thumb (diagnostic imaging)</term>
<term>Toes (diagnostic imaging)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>ADN ()</term>
<term>ADN (isolement et purification)</term>
<term>ADN (métabolisme)</term>
<term>Analyse de mutations d'ADN</term>
<term>Anomalies morphologiques congénitales de la main (diagnostic)</term>
<term>Anomalies morphologiques congénitales de la main (génétique)</term>
<term>Canaux potassiques éther-à-go-go (génétique)</term>
<term>Déficience intellectuelle (diagnostic)</term>
<term>Déficience intellectuelle (génétique)</term>
<term>Fibromatose gingivale (diagnostic)</term>
<term>Fibromatose gingivale (génétique)</term>
<term>Hallux (malformations)</term>
<term>Humains</term>
<term>Malformations crâniofaciales (diagnostic)</term>
<term>Malformations crâniofaciales (génétique)</term>
<term>Malformations multiples (diagnostic)</term>
<term>Malformations multiples (génétique)</term>
<term>Mutation faux-sens</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Ongles malformés (diagnostic)</term>
<term>Ongles malformés (génétique)</term>
<term>Orteils (imagerie diagnostique)</term>
<term>Pouce (imagerie diagnostique)</term>
<term>Pouce (malformations)</term>
<term>Protein-Serine-Threonine Kinases (génétique)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="chemistry" xml:lang="en"><term>DNA</term>
</keywords>
<keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Hallux</term>
<term>Thumb</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Abnormalities, Multiple</term>
<term>Craniofacial Abnormalities</term>
<term>Fibromatosis, Gingival</term>
<term>Hand Deformities, Congenital</term>
<term>Intellectual Disability</term>
<term>Nails, Malformed</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Anomalies morphologiques congénitales de la main</term>
<term>Déficience intellectuelle</term>
<term>Fibromatose gingivale</term>
<term>Malformations crâniofaciales</term>
<term>Malformations multiples</term>
<term>Ongles malformés</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Thumb</term>
<term>Toes</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term>
<term>Craniofacial Abnormalities</term>
<term>Ether-A-Go-Go Potassium Channels</term>
<term>Fibromatosis, Gingival</term>
<term>Hand Deformities, Congenital</term>
<term>Intellectual Disability</term>
<term>Nails, Malformed</term>
<term>Protein-Serine-Threonine Kinases</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Anomalies morphologiques congénitales de la main</term>
<term>Canaux potassiques éther-à-go-go</term>
<term>Déficience intellectuelle</term>
<term>Fibromatose gingivale</term>
<term>Malformations crâniofaciales</term>
<term>Malformations multiples</term>
<term>Ongles malformés</term>
<term>Protein-Serine-Threonine Kinases</term>
</keywords>
<keywords scheme="MESH" qualifier="imagerie diagnostique" xml:lang="fr"><term>Orteils</term>
<term>Pouce</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="isolation & purification" xml:lang="en"><term>DNA</term>
</keywords>
<keywords scheme="MESH" qualifier="isolement et purification" xml:lang="fr"><term>ADN</term>
</keywords>
<keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Hallux</term>
<term>Pouce</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>DNA</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>ADN</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term>
<term>Humans</term>
<term>Infant</term>
<term>Male</term>
<term>Mutation, Missense</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>ADN</term>
<term>Analyse de mutations d'ADN</term>
<term>Humains</term>
<term>Mutation faux-sens</term>
<term>Mâle</term>
<term>Nourrisson</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><sec><title>Background</title>
<p><italic>KCNH1</italic>
 encodes a voltage-gated potassium channel that is predominantly expressed in the central nervous system. Mutations in this gene were recently found to be responsible for Temple-Baraitser Syndrome (TMBTS) and Zimmermann-Laband syndrome (ZLS).</p>
</sec>
<sec><title>Methods</title>
<p>Here, we report a new case of TMBTS diagnosed in a Lebanese child. Whole genome sequencing was carried out on DNA samples of the proband and his parents to identify mutations associated with this disease. Sanger sequencing was performed to confirm the presence of detected variants.</p>
</sec>
<sec><title>Results</title>
<p>Whole genome sequencing revealed three missense mutations in TMBTS patient: c.1042G > A in <italic>KCNH1</italic>
, c.2131 T > C in <italic>STK36</italic>
, and c.726C > A in <italic>ZNF517</italic>
. According to all predictors, mutation in <italic>KCNH1</italic>
 is damaging <italic>de novo</italic>
 mutation that results in substitution of Glycine by Arginine, i.e., p.(Gly348Arg). This mutation was already reported in a patient with ZLS that could affect the connecting loop between helices S4-S5 of <italic>KCNH1</italic>
 with a gain of function effect.</p>
</sec>
<sec><title>Conclusions</title>
<p>Our findings demonstrate that <italic>KCNH1</italic>
 mutations cause TMBTS and expand the mutational spectrum of <italic>KCNH1</italic>
 in TMBTS<italic>.</italic>
 In addition, all cases of TMBTS were reviewed and compared to ZLS. We suggest that the two syndromes are a continuum and that the variability in the phenotypes is the result of the involvement of genetic modifiers.</p>
</sec>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Temple, Ik" uniqKey="Temple I">IK Temple</name>
</author>
<author><name sortKey="Baraitser, M" uniqKey="Baraitser M">M Baraitser</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Gabbett, Mt" uniqKey="Gabbett M">MT Gabbett</name>
</author>
<author><name sortKey="Clark, Rc" uniqKey="Clark R">RC Clark</name>
</author>
<author><name sortKey="Mcgaughran, Jm" uniqKey="Mcgaughran J">JM McGaughran</name>
</author>
</analytic>
</biblStruct>
<biblStruct></biblStruct>
<biblStruct><analytic><author><name sortKey="Yesil, G" uniqKey="Yesil G">G Yesil</name>
</author>
<author><name sortKey="Guler, S" uniqKey="Guler S">S Guler</name>
</author>
<author><name sortKey="Yuksel, A" uniqKey="Yuksel A">A Yuksel</name>
</author>
<author><name sortKey="Alanay, Y" uniqKey="Alanay Y">Y Alanay</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Shen, Jj" uniqKey="Shen J">JJ Shen</name>
</author>
</analytic>
</biblStruct>
<biblStruct></biblStruct>
<biblStruct><analytic><author><name sortKey="Castori, M" uniqKey="Castori M">M Castori</name>
</author>
<author><name sortKey="Valiante, M" uniqKey="Valiante M">M Valiante</name>
</author>
<author><name sortKey="Pascolini, G" uniqKey="Pascolini G">G Pascolini</name>
</author>
<author><name sortKey="Leuzzi, V" uniqKey="Leuzzi V">V Leuzzi</name>
</author>
<author><name sortKey="Pizzuti, A" uniqKey="Pizzuti A">A Pizzuti</name>
</author>
<author><name sortKey="Grammatico, P" uniqKey="Grammatico P">P Grammatico</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Miller, Sa" uniqKey="Miller S">SA Miller</name>
</author>
<author><name sortKey="Dykes, Dd" uniqKey="Dykes D">DD Dykes</name>
</author>
<author><name sortKey="Polesky, Hf" uniqKey="Polesky H">HF Polesky</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Li, H" uniqKey="Li H">H Li</name>
</author>
<author><name sortKey="Durbin, R" uniqKey="Durbin R">R Durbin</name>
</author>
</analytic>
</biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct><analytic><author><name sortKey="Kumar, P" uniqKey="Kumar P">P Kumar</name>
</author>
<author><name sortKey="Henikoff, S" uniqKey="Henikoff S">S Henikoff</name>
</author>
<author><name sortKey="Ng, Pc" uniqKey="Ng P">PC Ng</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Schwarz, Jm" uniqKey="Schwarz J">JM Schwarz</name>
</author>
<author><name sortKey="Rodelsperger, C" uniqKey="Rodelsperger C">C Rodelsperger</name>
</author>
<author><name sortKey="Schuelke, M" uniqKey="Schuelke M">M Schuelke</name>
</author>
<author><name sortKey="Seelow, D" uniqKey="Seelow D">D Seelow</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Shihab, Ha" uniqKey="Shihab H">HA Shihab</name>
</author>
<author><name sortKey="Gough, J" uniqKey="Gough J">J Gough</name>
</author>
<author><name sortKey="Cooper, Dn" uniqKey="Cooper D">DN Cooper</name>
</author>
<author><name sortKey="Day, In" uniqKey="Day I">IN Day</name>
</author>
<author><name sortKey="Gaunt, Tr" uniqKey="Gaunt T">TR Gaunt</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ouadid Ahidouch, H" uniqKey="Ouadid Ahidouch H">H Ouadid-Ahidouch</name>
</author>
<author><name sortKey="Le Bourhis, X" uniqKey="Le Bourhis X">X Le Bourhis</name>
</author>
<author><name sortKey="Roudbaraki, M" uniqKey="Roudbaraki M">M Roudbaraki</name>
</author>
<author><name sortKey="Toillon, Ra" uniqKey="Toillon R">RA Toillon</name>
</author>
<author><name sortKey="Delcourt, P" uniqKey="Delcourt P">P Delcourt</name>
</author>
<author><name sortKey="Prevarskaya, N" uniqKey="Prevarskaya N">N Prevarskaya</name>
</author>
</analytic>
</biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct><analytic><author><name sortKey="Allen, As" uniqKey="Allen A">AS Allen</name>
</author>
<author><name sortKey="Berkovic, Sf" uniqKey="Berkovic S">SF Berkovic</name>
</author>
<author><name sortKey="Cossette, P" uniqKey="Cossette P">P Cossette</name>
</author>
</analytic>
</biblStruct>
</listBibl>
</div1>
</back>
</TEI>
<affiliations><list><country><li>France</li>
<li>Qatar</li>
<li>États-Unis</li>
</country>
<region><li>Massachusetts</li>
<li>Île-de-France</li>
</region>
<settlement><li>Boston</li>
<li>Paris</li>
</settlement>
</list>
<tree><noCountry><name sortKey="Rose, Catherine M" sort="Rose, Catherine M" uniqKey="Rose C" first="Catherine M." last="Rose">Catherine M. Rose</name>
</noCountry>
<country name="France"><region name="Île-de-France"><name sortKey="Megarbane, Andre" sort="Megarbane, Andre" uniqKey="Megarbane A" first="André" last="Mégarbané">André Mégarbané</name>
</region>
<name sortKey="Choucair, Nancy" sort="Choucair, Nancy" uniqKey="Choucair N" first="Nancy" last="Choucair">Nancy Choucair</name>
<name sortKey="Hobeika, Remy" sort="Hobeika, Remy" uniqKey="Hobeika R" first="Remy" last="Hobeika">Remy Hobeika</name>
<name sortKey="Macary, Yvette" sort="Macary, Yvette" uniqKey="Macary Y" first="Yvette" last="Macary">Yvette Macary</name>
</country>
<country name="Qatar"><noRegion><name sortKey="Al Ali, Rashid" sort="Al Ali, Rashid" uniqKey="Al Ali R" first="Rashid" last="Al-Ali">Rashid Al-Ali</name>
</noRegion>
<name sortKey="Chouchane, Aouatef" sort="Chouchane, Aouatef" uniqKey="Chouchane A" first="Aouatef" last="Chouchane">Aouatef Chouchane</name>
<name sortKey="Chouchane, Lotfi" sort="Chouchane, Lotfi" uniqKey="Chouchane L" first="Lotfi" last="Chouchane">Lotfi Chouchane</name>
<name sortKey="Jithesh, Puthen V" sort="Jithesh, Puthen V" uniqKey="Jithesh P" first="Puthen V." last="Jithesh">Puthen V. Jithesh</name>
<name sortKey="Ladjimi, Moncef" sort="Ladjimi, Moncef" uniqKey="Ladjimi M" first="Moncef" last="Ladjimi">Moncef Ladjimi</name>
<name sortKey="Liu, Wei" sort="Liu, Wei" uniqKey="Liu W" first="Wei" last="Liu">Wei Liu</name>
<name sortKey="Marincola, Francesco M" sort="Marincola, Francesco M" uniqKey="Marincola F" first="Francesco M." last="Marincola">Francesco M. Marincola</name>
<name sortKey="Sastry, Konduru S" sort="Sastry, Konduru S" uniqKey="Sastry K" first="Konduru S" last="Sastry">Konduru S. Sastry</name>
<name sortKey="Temanni, Ramzi" sort="Temanni, Ramzi" uniqKey="Temanni R" first="Ramzi" last="Temanni">Ramzi Temanni</name>
<name sortKey="Thomas, Remy" sort="Thomas, Remy" uniqKey="Thomas R" first="Remy" last="Thomas">Remy Thomas</name>
<name sortKey="Tomei, Sara" sort="Tomei, Sara" uniqKey="Tomei S" first="Sara" last="Tomei">Sara Tomei</name>
<name sortKey="Wang, Ena" sort="Wang, Ena" uniqKey="Wang E" first="Ena" last="Wang">Ena Wang</name>
</country>
<country name="États-Unis"><region name="Massachusetts"><name sortKey="Lek, Monko" sort="Lek, Monko" uniqKey="Lek M" first="Monko" last="Lek">Monko Lek</name>
</region>
<name sortKey="Macarthur, Daniel" sort="Macarthur, Daniel" uniqKey="Macarthur D" first="Daniel" last="Macarthur">Daniel Macarthur</name>
</country>
</tree>
</affiliations>
</record>

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

Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?

Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?

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