LymphedemaV1, Main, Curation, bibRecord, 00B465

Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation

Identifieur interne : 00B465 ( Main/Curation ); précédent : 00B464; suivant : 00B466

Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation

Auteurs : Sibylle Strenge [Allemagne] ; Ursula G. Froster [Allemagne]

Source :

American Journal of Medical Genetics [ 0148-7299 ] ; 1998-12-28.

RBID : ISTEX:64FE25E62163035F73824C25865E85A91EFD818C

Descripteurs français

KwdFr :
- Adulte, Enfant, Femelle, Humains, Lymphoedème (génétique), Microcéphalie (génétique), Mâle, Pedigree, Syndrome, Troubles de la croissance (génétique).
MESH :
- génétique : Lymphoedème, Microcéphalie, Troubles de la croissance.
Pascal (Inist)
- Adulte, Association, Enfant, Etude cas, Etude familiale, Femelle, Homme, Humains, Hérédité, Lymphoedème, Microcéphalie, Mâle, Pedigree, Phénotype, Syndrome, Taille corporelle.
Wicri :
- topic : Association, Homme.

English descriptors

KwdEn :
- Adult, Association, Body size, Case study, Child, Family study, Female, Growth Disorders (genetics), Human, Humans, Inheritance(genetics), Lymphedema, Lymphedema (genetics), Male, Microcephaly, Microcephaly (genetics), Pedigree, Phenotype, Syndrome.
MESH :
- genetics : Growth Disorders, Lymphedema, Microcephaly.
- Adult, Child, Female, Humans, Male, Pedigree, Syndrome.

Abstract

Patients with the rare autosomal dominant microcephaly‐lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X‐linked inheritance cannot be excluded. Am. J. Med. Genet. 80:506–509, 1998. © 1998 Wiley‐Liss, Inc.

Url:

https://api.istex.fr/document/64FE25E62163035F73824C25865E85A91EFD818C/fulltext/pdf

DOI: 10.1002/(SICI)1096-8628(19981228)80:5<506::AID-AJMG13>3.0.CO;2-1

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

to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :002F22
to stream Istex, to step Curation: Pour aller vers cette notice dans l'étape Curation :002F22
to stream Istex, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :003C00
to stream Main, to step Merge: Pour aller vers cette notice dans l'étape Curation :00BB78
to stream PascalFrancis, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000A56
to stream PascalFrancis, to step Curation: Pour aller vers cette notice dans l'étape Curation :001052
to stream PascalFrancis, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000A62
to stream Main, to step Merge: Pour aller vers cette notice dans l'étape Curation :00BD86
to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :004D49
to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :004D49
to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :004D49
to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :00BD72
to stream Ncbi, to step Curation: Pour aller vers cette notice dans l'étape Curation :00BD72
to stream Ncbi, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :00BD72
to stream Main, to step Merge: Pour aller vers cette notice dans l'étape Curation :00B759

Links to Exploration step

ISTEX:64FE25E62163035F73824C25865E85A91EFD818C

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation</title>
<author><name sortKey="Strenge, Sibylle" sort="Strenge, Sibylle" uniqKey="Strenge S" first="Sibylle" last="Strenge">Sibylle Strenge</name>
</author>
<author><name sortKey="Froster, Ursula G" sort="Froster, Ursula G" uniqKey="Froster U" first="Ursula G." last="Froster">Ursula G. Froster</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:64FE25E62163035F73824C25865E85A91EFD818C</idno>
<date when="1998" year="1998">1998</date>
<idno type="doi">10.1002/(SICI)1096-8628(19981228)80:5<506::AID-AJMG13>3.0.CO;2-1</idno>
<idno type="url">https://api.istex.fr/document/64FE25E62163035F73824C25865E85A91EFD818C/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">002F22</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002F22</idno>
<idno type="wicri:Area/Istex/Curation">002F22</idno>
<idno type="wicri:Area/Istex/Checkpoint">003C00</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">003C00</idno>
<idno type="wicri:doubleKey">0148-7299:1998:Strenge S:microcephaly:lymphedema:syndrome</idno>
<idno type="wicri:Area/Main/Merge">00BB78</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:99-0047458</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000A56</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001052</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">000A62</idno>
<idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000A62</idno>
<idno type="wicri:doubleKey">0148-7299:1998:Strenge S:microcephaly:lymphedema:syndrome</idno>
<idno type="wicri:Area/Main/Merge">00BD86</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:9880217</idno>
<idno type="wicri:Area/PubMed/Corpus">004D49</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">004D49</idno>
<idno type="wicri:Area/PubMed/Curation">004D49</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">004D49</idno>
<idno type="wicri:Area/PubMed/Checkpoint">004D49</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">004D49</idno>
<idno type="wicri:Area/Ncbi/Merge">00BD72</idno>
<idno type="wicri:Area/Ncbi/Curation">00BD72</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">00BD72</idno>
<idno type="wicri:doubleKey">0148-7299:1998:Strenge S:microcephaly:lymphedema:syndrome</idno>
<idno type="wicri:Area/Main/Merge">00B759</idno>
<idno type="wicri:Area/Main/Curation">00B465</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation</title>
<author><name sortKey="Strenge, Sibylle" sort="Strenge, Sibylle" uniqKey="Strenge S" first="Sibylle" last="Strenge">Sibylle Strenge</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universität Leipzig, Leipzig</wicri:regionArea>
<placeName><region type="land" nuts="1">Saxe (Land)</region>
<region type="district" nuts="2">District de Leipzig</region>
<settlement type="city">Leipzig</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universität Leipzig, Philipp‐Rosenthal‐Str. 55, D‐04103 Leipzig</wicri:regionArea>
<placeName><region type="land" nuts="1">Saxe (Land)</region>
<region type="district" nuts="2">District de Leipzig</region>
<settlement type="city">Leipzig</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Froster, Ursula G" sort="Froster, Ursula G" uniqKey="Froster U" first="Ursula G." last="Froster">Ursula G. Froster</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universität Leipzig, Leipzig</wicri:regionArea>
<placeName><region type="land" nuts="1">Saxe (Land)</region>
<region type="district" nuts="2">District de Leipzig</region>
<settlement type="city">Leipzig</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j" type="main">American Journal of Medical Genetics</title>
<title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title>
<idno type="ISSN">0148-7299</idno>
<idno type="eISSN">1096-8628</idno>
<imprint><biblScope unit="vol">80</biblScope>
<biblScope unit="issue">5</biblScope>
<biblScope unit="page" from="506">506</biblScope>
<biblScope unit="page" to="509">509</biblScope>
<biblScope unit="page-count">4</biblScope>
<publisher>John Wiley & Sons, Inc.</publisher>
<pubPlace>New York</pubPlace>
<date type="published" when="1998-12-28">1998-12-28</date>
</imprint>
<idno type="ISSN">0148-7299</idno>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0148-7299</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Association</term>
<term>Body size</term>
<term>Case study</term>
<term>Child</term>
<term>Family study</term>
<term>Female</term>
<term>Growth Disorders (genetics)</term>
<term>Human</term>
<term>Humans</term>
<term>Inheritance(genetics)</term>
<term>Lymphedema</term>
<term>Lymphedema (genetics)</term>
<term>Male</term>
<term>Microcephaly</term>
<term>Microcephaly (genetics)</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term>
<term>Enfant</term>
<term>Femelle</term>
<term>Humains</term>
<term>Lymphoedème (génétique)</term>
<term>Microcéphalie (génétique)</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Syndrome</term>
<term>Troubles de la croissance (génétique)</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Growth Disorders</term>
<term>Lymphedema</term>
<term>Microcephaly</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphoedème</term>
<term>Microcéphalie</term>
<term>Troubles de la croissance</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Child</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Pedigree</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Adulte</term>
<term>Association</term>
<term>Enfant</term>
<term>Etude cas</term>
<term>Etude familiale</term>
<term>Femelle</term>
<term>Homme</term>
<term>Humains</term>
<term>Hérédité</term>
<term>Lymphoedème</term>
<term>Microcéphalie</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Phénotype</term>
<term>Syndrome</term>
<term>Taille corporelle</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Association</term>
<term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Patients with the rare autosomal dominant microcephaly‐lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X‐linked inheritance cannot be excluded. Am. J. Med. Genet. 80:506–509, 1998. © 1998 Wiley‐Liss, Inc.</div>
</front>
</TEI>
<double idat="0148-7299:1998:Strenge S:microcephaly:lymphedema:syndrome"><INIST><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Microcephaly-lymphedema syndrome : Report of a family with short stature as additional manifestation</title>
<author><name sortKey="Strenge, S" sort="Strenge, S" uniqKey="Strenge S" first="S." last="Strenge">S. Strenge</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Institut für Humangenetik, Universität Leipzig</s1>
<s2>Leipzig</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Saxe (Land)</region>
<region type="district" nuts="2">District de Leipzig</region>
<settlement type="city">Leipzig</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Froster, U G" sort="Froster, U G" uniqKey="Froster U" first="U. G." last="Froster">U. G. Froster</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Institut für Humangenetik, Universität Leipzig</s1>
<s2>Leipzig</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Saxe (Land)</region>
<region type="district" nuts="2">District de Leipzig</region>
<settlement type="city">Leipzig</settlement>
</placeName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">99-0047458</idno>
<date when="1998">1998</date>
<idno type="stanalyst">PASCAL 99-0047458 INIST</idno>
<idno type="RBID">Pascal:99-0047458</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000A56</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001052</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">000A62</idno>
<idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000A62</idno>
<idno type="wicri:doubleKey">0148-7299:1998:Strenge S:microcephaly:lymphedema:syndrome</idno>
<idno type="wicri:Area/Main/Merge">00BD86</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Microcephaly-lymphedema syndrome : Report of a family with short stature as additional manifestation</title>
<author><name sortKey="Strenge, S" sort="Strenge, S" uniqKey="Strenge S" first="S." last="Strenge">S. Strenge</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Institut für Humangenetik, Universität Leipzig</s1>
<s2>Leipzig</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Saxe (Land)</region>
<region type="district" nuts="2">District de Leipzig</region>
<settlement type="city">Leipzig</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Froster, U G" sort="Froster, U G" uniqKey="Froster U" first="U. G." last="Froster">U. G. Froster</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Institut für Humangenetik, Universität Leipzig</s1>
<s2>Leipzig</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Saxe (Land)</region>
<region type="district" nuts="2">District de Leipzig</region>
<settlement type="city">Leipzig</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">American journal of medical genetics</title>
<title level="j" type="abbreviated">Am. j. med. genet.</title>
<idno type="ISSN">0148-7299</idno>
<imprint><date when="1998">1998</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">American journal of medical genetics</title>
<title level="j" type="abbreviated">Am. j. med. genet.</title>
<idno type="ISSN">0148-7299</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Association</term>
<term>Body size</term>
<term>Case study</term>
<term>Family study</term>
<term>Human</term>
<term>Inheritance(genetics)</term>
<term>Lymphedema</term>
<term>Microcephaly</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Microcéphalie</term>
<term>Association</term>
<term>Lymphoedème</term>
<term>Taille corporelle</term>
<term>Phénotype</term>
<term>Hérédité</term>
<term>Etude familiale</term>
<term>Etude cas</term>
<term>Homme</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Association</term>
<term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Patients with the rare autosomal dominant microcephaly-lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X-linked inheritance cannot be excluded.</div>
</front>
</TEI>
</INIST>
<ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation</title>
<author><name sortKey="Strenge, Sibylle" sort="Strenge, Sibylle" uniqKey="Strenge S" first="Sibylle" last="Strenge">Sibylle Strenge</name>
</author>
<author><name sortKey="Froster, Ursula G" sort="Froster, Ursula G" uniqKey="Froster U" first="Ursula G." last="Froster">Ursula G. Froster</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:64FE25E62163035F73824C25865E85A91EFD818C</idno>
<date when="1998" year="1998">1998</date>
<idno type="doi">10.1002/(SICI)1096-8628(19981228)80:5<506::AID-AJMG13>3.0.CO;2-1</idno>
<idno type="url">https://api.istex.fr/document/64FE25E62163035F73824C25865E85A91EFD818C/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">002F22</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002F22</idno>
<idno type="wicri:Area/Istex/Curation">002F22</idno>
<idno type="wicri:Area/Istex/Checkpoint">003C00</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">003C00</idno>
<idno type="wicri:doubleKey">0148-7299:1998:Strenge S:microcephaly:lymphedema:syndrome</idno>
<idno type="wicri:Area/Main/Merge">00BB78</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation</title>
<author><name sortKey="Strenge, Sibylle" sort="Strenge, Sibylle" uniqKey="Strenge S" first="Sibylle" last="Strenge">Sibylle Strenge</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universität Leipzig, Leipzig</wicri:regionArea>
<placeName><region type="land" nuts="1">Saxe (Land)</region>
<region type="district" nuts="2">District de Leipzig</region>
<settlement type="city">Leipzig</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universität Leipzig, Philipp‐Rosenthal‐Str. 55, D‐04103 Leipzig</wicri:regionArea>
<placeName><region type="land" nuts="1">Saxe (Land)</region>
<region type="district" nuts="2">District de Leipzig</region>
<settlement type="city">Leipzig</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Froster, Ursula G" sort="Froster, Ursula G" uniqKey="Froster U" first="Ursula G." last="Froster">Ursula G. Froster</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universität Leipzig, Leipzig</wicri:regionArea>
<placeName><region type="land" nuts="1">Saxe (Land)</region>
<region type="district" nuts="2">District de Leipzig</region>
<settlement type="city">Leipzig</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j" type="main">American Journal of Medical Genetics</title>
<title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title>
<idno type="ISSN">0148-7299</idno>
<idno type="eISSN">1096-8628</idno>
<imprint><biblScope unit="vol">80</biblScope>
<biblScope unit="issue">5</biblScope>
<biblScope unit="page" from="506">506</biblScope>
<biblScope unit="page" to="509">509</biblScope>
<biblScope unit="page-count">4</biblScope>
<publisher>John Wiley & Sons, Inc.</publisher>
<pubPlace>New York</pubPlace>
<date type="published" when="1998-12-28">1998-12-28</date>
</imprint>
<idno type="ISSN">0148-7299</idno>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0148-7299</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Patients with the rare autosomal dominant microcephaly‐lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X‐linked inheritance cannot be excluded. Am. J. Med. Genet. 80:506–509, 1998. © 1998 Wiley‐Liss, Inc.</div>
</front>
</TEI>
</ISTEX>
<PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Microcephaly-lymphedema syndrome: report of a family with short stature as additional manifestation.</title>
<author><name sortKey="Strenge, S" sort="Strenge, S" uniqKey="Strenge S" first="S" last="Strenge">S. Strenge</name>
<affiliation wicri:level="1"><nlm:affiliation>Institut für Humangenetik, Universität Leipzig, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universität Leipzig</wicri:regionArea>
<wicri:noRegion>Universität Leipzig</wicri:noRegion>
<wicri:noRegion>Universität Leipzig</wicri:noRegion>
<wicri:noRegion>Universität Leipzig</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Froster, U G" sort="Froster, U G" uniqKey="Froster U" first="U G" last="Froster">U G Froster</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="1998">1998</date>
<idno type="RBID">pubmed:9880217</idno>
<idno type="pmid">9880217</idno>
<idno type="wicri:Area/PubMed/Corpus">004D49</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">004D49</idno>
<idno type="wicri:Area/PubMed/Curation">004D49</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">004D49</idno>
<idno type="wicri:Area/PubMed/Checkpoint">004D49</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">004D49</idno>
<idno type="wicri:Area/Ncbi/Merge">00BD72</idno>
<idno type="wicri:Area/Ncbi/Curation">00BD72</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">00BD72</idno>
<idno type="wicri:doubleKey">0148-7299:1998:Strenge S:microcephaly:lymphedema:syndrome</idno>
<idno type="wicri:Area/Main/Merge">00B759</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Microcephaly-lymphedema syndrome: report of a family with short stature as additional manifestation.</title>
<author><name sortKey="Strenge, S" sort="Strenge, S" uniqKey="Strenge S" first="S" last="Strenge">S. Strenge</name>
<affiliation wicri:level="1"><nlm:affiliation>Institut für Humangenetik, Universität Leipzig, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universität Leipzig</wicri:regionArea>
<wicri:noRegion>Universität Leipzig</wicri:noRegion>
<wicri:noRegion>Universität Leipzig</wicri:noRegion>
<wicri:noRegion>Universität Leipzig</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Froster, U G" sort="Froster, U G" uniqKey="Froster U" first="U G" last="Froster">U G Froster</name>
</author>
</analytic>
<series><title level="j">American journal of medical genetics</title>
<idno type="ISSN">0148-7299</idno>
<imprint><date when="1998" type="published">1998</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Child</term>
<term>Female</term>
<term>Growth Disorders (genetics)</term>
<term>Humans</term>
<term>Lymphedema (genetics)</term>
<term>Male</term>
<term>Microcephaly (genetics)</term>
<term>Pedigree</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term>
<term>Enfant</term>
<term>Femelle</term>
<term>Humains</term>
<term>Lymphoedème (génétique)</term>
<term>Microcéphalie (génétique)</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Syndrome</term>
<term>Troubles de la croissance (génétique)</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Growth Disorders</term>
<term>Lymphedema</term>
<term>Microcephaly</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphoedème</term>
<term>Microcéphalie</term>
<term>Troubles de la croissance</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Child</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Pedigree</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adulte</term>
<term>Enfant</term>
<term>Femelle</term>
<term>Humains</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Syndrome</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Patients with the rare autosomal dominant microcephaly-lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X-linked inheritance cannot be excluded.</div>
</front>
</TEI>
</PubMed>
</double>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Curation

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 00B465 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Curation/biblio.hfd -nk 00B465 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Main
   |étape=   Curation
   |type=    RBID
   |clé=     ISTEX:64FE25E62163035F73824C25865E85A91EFD818C
   |texte=   Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation
}}

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

	Serveur d'exploration sur le lymphœdème
	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.

Serveur d'exploration sur le lymphœdème

Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation

Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation

Source :

Descripteurs français

English descriptors

Abstract

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

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri