Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation
Identifieur interne : 004731 ( Main/Exploration ); précédent : 004730; suivant : 004732Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation
Auteurs : Matthew G. Butler [États-Unis] ; Susan L. Dagenais [États-Unis] ; José L. Garcia-Perez [États-Unis, Espagne] ; Pascal Brouillard [Belgique] ; Miikka Vikkula [Belgique] ; Peter Strouse [États-Unis] ; Jeffrey W. Innis [États-Unis] ; Thomas W. Glover [États-Unis]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2012-04.
Descripteurs français
- KwdFr :
- Cartographie chromosomique, Chromosomes humains de la paire 16 (génétique), Cils (malformations), Déficience intellectuelle (génétique), Délétion de gène, Enfant, Facteurs de transcription Forkhead (génétique), Femelle, Génotype, Humains, Imagerie par résonance magnétique, Lymphoedème (génétique), Microcéphalie (génétique), Paragangliome extrasurrénalien (génétique), Protéines adaptatrices de la transduction du signal (génétique), Reflux vésico-urétéral (génétique), Récepteur TIE-2 (génétique), Tumeur glomique (génétique), Variations de nombre de copies de segment d'ADN.
- MESH :
- génétique : Chromosomes humains de la paire 16, Déficience intellectuelle, Facteurs de transcription Forkhead, Lymphoedème, Microcéphalie, Paragangliome extrasurrénalien, Protéines adaptatrices de la transduction du signal, Reflux vésico-urétéral, Récepteur TIE-2, Tumeur glomique.
- malformations : Cils.
- Cartographie chromosomique, Délétion de gène, Enfant, Femelle, Génotype, Humains, Imagerie par résonance magnétique, Variations de nombre de copies de segment d'ADN.
English descriptors
- KwdEn :
- Adaptor Proteins, Signal Transducing (genetics), Child, Chromosome Mapping, Chromosomes, Human, Pair 16 (genetics), DNA Copy Number Variations, Eyelashes (abnormalities), Female, Forkhead Transcription Factors (genetics), Gene Deletion, Genotype, Glomus Tumor (genetics), Humans, Intellectual Disability (genetics), Lymphedema (genetics), Magnetic Resonance Imaging, Microcephaly (genetics), Paraganglioma, Extra-Adrenal (genetics), Receptor, TIE-2 (genetics), Vesico-Ureteral Reflux (genetics).
- MESH :
- chemical , genetics : Adaptor Proteins, Signal Transducing, Forkhead Transcription Factors, Receptor, TIE-2.
- abnormalities : Eyelashes.
- genetics : Chromosomes, Human, Pair 16, Glomus Tumor, Intellectual Disability, Lymphedema, Microcephaly, Paraganglioma, Extra-Adrenal, Vesico-Ureteral Reflux.
- Child, Chromosome Mapping, DNA Copy Number Variations, Female, Gene Deletion, Genotype, Humans, Magnetic Resonance Imaging.
Abstract
Two hereditary syndromes, lymphedema‐distichiasis (LD) syndrome and blepharo‐chelio‐dontic (BCD) syndrome include the aberrant growth of eyelashes from the meibomian glands, known as distichiasis. LD is an autosomal dominant syndrome primarily characterized by distichiasis and the onset of lymphedema usually during puberty. Mutations in the forkhead transcription factor FOXC2 are the only known cause of LD. BCD syndrome consists of autosomal dominant abnormalities of the eyelid, lip, and teeth, and the etiology remains unknown. In this report, we describe a proband that presented with distichiasis, microcephaly, bilateral grade IV vesicoureteral reflux requiring ureteral re‐implantation, mild intellectual impairment and apparent glomuvenous malformations (GVM). Distichiasis was present in three generations of the proband's maternal side of the family. The GVMs were severe in the proband, and maternal family members exhibited lower extremity varicosities of variable degree. A GLMN (glomulin) gene mutation was identified in the proband that accounts for the observed GVMs; no other family member could be tested. TIE2 sequencing revealed no mutations. In the proband, an additional submicroscopic 265 kb contiguous gene deletion was identified in 16q24.3, located 609 kb distal to the FOXC2 locus, which was inherited from the proband's mother. The deletion includes the C16ORF95, FBXO31, MAP1LC3B, and ZCCHC14 loci and 115 kb of a gene desert distal to FOXC2 and FOXL1. Thus, it is likely that the microcephaly, distichiasis, vesicoureteral, and intellectual impairment in this family may be caused by the deletion of one or more of these genes and/or deletion of distant cis‐regulatory elements of FOXC2 expression. © 2012 Wiley Periodicals, Inc.
Url:
- https://api.istex.fr/document/462F6BB716DE82AF593123A9ED09591708BF939C/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314153
DOI: 10.1002/ajmg.a.35229
Affiliations:
- Belgique, Espagne, États-Unis
- Michigan, Région de Bruxelles-Capitale
- Bruxelles, Louvain-la-Neuve
- Université catholique de Louvain
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 002022
- to stream Istex, to step Curation: 002022
- to stream Istex, to step Checkpoint: 000428
- to stream Pmc, to step Corpus: 002987
- to stream Pmc, to step Curation: 002986
- to stream Pmc, to step Checkpoint: 002888
- to stream PubMed, to step Corpus: 002232
- to stream PubMed, to step Curation: 002232
- to stream PubMed, to step Checkpoint: 002232
- to stream Ncbi, to step Merge: 004B67
- to stream Ncbi, to step Curation: 004B67
- to stream Ncbi, to step Checkpoint: 004B67
- to stream Main, to step Merge: 004756
- to stream Main, to step Curation: 004731
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation</title><author><name sortKey="Butler, Matthew G" sort="Butler, Matthew G" uniqKey="Butler M" first="Matthew G." last="Butler">Matthew G. Butler</name></author><author><name sortKey="Dagenais, Susan L" sort="Dagenais, Susan L" uniqKey="Dagenais S" first="Susan L." last="Dagenais">Susan L. Dagenais</name></author><author><name sortKey="Garcia Erez, Jose L" sort="Garcia Erez, Jose L" uniqKey="Garcia Erez J" first="José L." last="Garcia-Perez">José L. Garcia-Perez</name></author><author><name sortKey="Brouillard, Pascal" sort="Brouillard, Pascal" uniqKey="Brouillard P" first="Pascal" last="Brouillard">Pascal Brouillard</name></author><author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name></author><author><name sortKey="Strouse, Peter" sort="Strouse, Peter" uniqKey="Strouse P" first="Peter" last="Strouse">Peter Strouse</name></author><author><name sortKey="Innis, Jeffrey W" sort="Innis, Jeffrey W" uniqKey="Innis J" first="Jeffrey W." last="Innis">Jeffrey W. Innis</name></author><author><name sortKey="Glover, Thomas W" sort="Glover, Thomas W" uniqKey="Glover T" first="Thomas W." last="Glover">Thomas W. Glover</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:462F6BB716DE82AF593123A9ED09591708BF939C</idno><date when="2012" year="2012">2012</date><idno type="doi">10.1002/ajmg.a.35229</idno><idno type="url">https://api.istex.fr/document/462F6BB716DE82AF593123A9ED09591708BF939C/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002022</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002022</idno><idno type="wicri:Area/Istex/Curation">002022</idno><idno type="wicri:Area/Istex/Checkpoint">000428</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">000428</idno><idno type="wicri:doubleKey">1552-4825:2012:Butler M:microcephaly:intellectual:impairment</idno><idno type="wicri:source">PMC</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314153</idno><idno type="RBID">PMC:3314153</idno><idno type="wicri:Area/Pmc/Corpus">002987</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002987</idno><idno type="wicri:Area/Pmc/Curation">002986</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002986</idno><idno type="wicri:Area/Pmc/Checkpoint">002888</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002888</idno><idno type="wicri:source">PubMed</idno><idno type="wicri:Area/PubMed/Corpus">002232</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002232</idno><idno type="wicri:Area/PubMed/Curation">002232</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002232</idno><idno type="wicri:Area/PubMed/Checkpoint">002232</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">002232</idno><idno type="wicri:Area/Ncbi/Merge">004B67</idno><idno type="wicri:Area/Ncbi/Curation">004B67</idno><idno type="wicri:Area/Ncbi/Checkpoint">004B67</idno><idno type="wicri:doubleKey">1552-4825:2012:Butler M:microcephaly:intellectual:impairment</idno><idno type="wicri:Area/Main/Merge">004756</idno><idno type="wicri:Area/Main/Curation">004731</idno><idno type="wicri:Area/Main/Exploration">004731</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a <hi rend="italic">Glomulin</hi> mutation<ref type="note" target="#fn1"></ref></title><author><name sortKey="Butler, Matthew G" sort="Butler, Matthew G" uniqKey="Butler M" first="Matthew G." last="Butler">Matthew G. Butler</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Human Genetics, University of Michigan Medical School, Ann Arbor</wicri:cityArea></affiliation><affiliation></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Human Genetics, 1241 E. Catherine Street, 4909 Buhl Box 0618, University of Michigan Medical School, Ann Arbor</wicri:cityArea></affiliation></author><author><name sortKey="Dagenais, Susan L" sort="Dagenais, Susan L" uniqKey="Dagenais S" first="Susan L." last="Dagenais">Susan L. Dagenais</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Human Genetics, University of Michigan Medical School, Ann Arbor</wicri:cityArea></affiliation></author><author><name sortKey="Garcia Erez, Jose L" sort="Garcia Erez, Jose L" uniqKey="Garcia Erez J" first="José L." last="Garcia-Perez">José L. Garcia-Perez</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Human Genetics, University of Michigan Medical School, Ann Arbor</wicri:cityArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Human DNA Variability, GENYO (Pfizer‐University of Granada‐Andalusian Government Center for Genomics and Oncological Research), Granada</wicri:regionArea><wicri:noRegion>Granada</wicri:noRegion></affiliation></author><author><name sortKey="Brouillard, Pascal" sort="Brouillard, Pascal" uniqKey="Brouillard P" first="Pascal" last="Brouillard">Pascal Brouillard</name><affiliation wicri:level="4"><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation></author><author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name><affiliation wicri:level="4"><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation></author><author><name sortKey="Strouse, Peter" sort="Strouse, Peter" uniqKey="Strouse P" first="Peter" last="Strouse">Peter Strouse</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Radiology, University of Michigan Medical School, Ann Arbor</wicri:cityArea></affiliation></author><author><name sortKey="Innis, Jeffrey W" sort="Innis, Jeffrey W" uniqKey="Innis J" first="Jeffrey W." last="Innis">Jeffrey W. Innis</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Human Genetics, University of Michigan Medical School, Ann Arbor</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Pediatrics and Communicable Diseases, University of Michigan Medical School, Ann Arbor</wicri:cityArea></affiliation></author><author><name sortKey="Glover, Thomas W" sort="Glover, Thomas W" uniqKey="Glover T" first="Thomas W." last="Glover">Thomas W. Glover</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Human Genetics, University of Michigan Medical School, Ann Arbor</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Pediatrics and Communicable Diseases, University of Michigan Medical School, Ann Arbor</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><biblScope unit="vol">158A</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="839">839</biblScope><biblScope unit="page" to="849">849</biblScope><biblScope unit="page-count">11</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2012-04">2012-04</date></imprint><idno type="ISSN">1552-4825</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adaptor Proteins, Signal Transducing (genetics)</term><term>Child</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 16 (genetics)</term><term>DNA Copy Number Variations</term><term>Eyelashes (abnormalities)</term><term>Female</term><term>Forkhead Transcription Factors (genetics)</term><term>Gene Deletion</term><term>Genotype</term><term>Glomus Tumor (genetics)</term><term>Humans</term><term>Intellectual Disability (genetics)</term><term>Lymphedema (genetics)</term><term>Magnetic Resonance Imaging</term><term>Microcephaly (genetics)</term><term>Paraganglioma, Extra-Adrenal (genetics)</term><term>Receptor, TIE-2 (genetics)</term><term>Vesico-Ureteral Reflux (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Cartographie chromosomique</term><term>Chromosomes humains de la paire 16 (génétique)</term><term>Cils (malformations)</term><term>Déficience intellectuelle (génétique)</term><term>Délétion de gène</term><term>Enfant</term><term>Facteurs de transcription Forkhead (génétique)</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Imagerie par résonance magnétique</term><term>Lymphoedème (génétique)</term><term>Microcéphalie (génétique)</term><term>Paragangliome extrasurrénalien (génétique)</term><term>Protéines adaptatrices de la transduction du signal (génétique)</term><term>Reflux vésico-urétéral (génétique)</term><term>Récepteur TIE-2 (génétique)</term><term>Tumeur glomique (génétique)</term><term>Variations de nombre de copies de segment d'ADN</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Adaptor Proteins, Signal Transducing</term><term>Forkhead Transcription Factors</term><term>Receptor, TIE-2</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Eyelashes</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 16</term><term>Glomus Tumor</term><term>Intellectual Disability</term><term>Lymphedema</term><term>Microcephaly</term><term>Paraganglioma, Extra-Adrenal</term><term>Vesico-Ureteral Reflux</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Chromosomes humains de la paire 16</term><term>Déficience intellectuelle</term><term>Facteurs de transcription Forkhead</term><term>Lymphoedème</term><term>Microcéphalie</term><term>Paragangliome extrasurrénalien</term><term>Protéines adaptatrices de la transduction du signal</term><term>Reflux vésico-urétéral</term><term>Récepteur TIE-2</term><term>Tumeur glomique</term></keywords><keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Cils</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child</term><term>Chromosome Mapping</term><term>DNA Copy Number Variations</term><term>Female</term><term>Gene Deletion</term><term>Genotype</term><term>Humans</term><term>Magnetic Resonance Imaging</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Cartographie chromosomique</term><term>Délétion de gène</term><term>Enfant</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Imagerie par résonance magnétique</term><term>Variations de nombre de copies de segment d'ADN</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Two hereditary syndromes, lymphedema‐distichiasis (LD) syndrome and blepharo‐chelio‐dontic (BCD) syndrome include the aberrant growth of eyelashes from the meibomian glands, known as distichiasis. LD is an autosomal dominant syndrome primarily characterized by distichiasis and the onset of lymphedema usually during puberty. Mutations in the forkhead transcription factor FOXC2 are the only known cause of LD. BCD syndrome consists of autosomal dominant abnormalities of the eyelid, lip, and teeth, and the etiology remains unknown. In this report, we describe a proband that presented with distichiasis, microcephaly, bilateral grade IV vesicoureteral reflux requiring ureteral re‐implantation, mild intellectual impairment and apparent glomuvenous malformations (GVM). Distichiasis was present in three generations of the proband's maternal side of the family. The GVMs were severe in the proband, and maternal family members exhibited lower extremity varicosities of variable degree. A GLMN (glomulin) gene mutation was identified in the proband that accounts for the observed GVMs; no other family member could be tested. TIE2 sequencing revealed no mutations. In the proband, an additional submicroscopic 265 kb contiguous gene deletion was identified in 16q24.3, located 609 kb distal to the FOXC2 locus, which was inherited from the proband's mother. The deletion includes the C16ORF95, FBXO31, MAP1LC3B, and ZCCHC14 loci and 115 kb of a gene desert distal to FOXC2 and FOXL1. Thus, it is likely that the microcephaly, distichiasis, vesicoureteral, and intellectual impairment in this family may be caused by the deletion of one or more of these genes and/or deletion of distant cis‐regulatory elements of FOXC2 expression. © 2012 Wiley Periodicals, Inc.</div></front></TEI><affiliations><list><country><li>Belgique</li><li>Espagne</li><li>États-Unis</li></country><region><li>Michigan</li><li>Région de Bruxelles-Capitale</li></region><settlement><li>Bruxelles</li><li>Louvain-la-Neuve</li></settlement><orgName><li>Université catholique de Louvain</li></orgName></list><tree><country name="États-Unis"><region name="Michigan"><name sortKey="Butler, Matthew G" sort="Butler, Matthew G" uniqKey="Butler M" first="Matthew G." last="Butler">Matthew G. Butler</name></region><name sortKey="Butler, Matthew G" sort="Butler, Matthew G" uniqKey="Butler M" first="Matthew G." last="Butler">Matthew G. Butler</name><name sortKey="Dagenais, Susan L" sort="Dagenais, Susan L" uniqKey="Dagenais S" first="Susan L." last="Dagenais">Susan L. Dagenais</name><name sortKey="Garcia Erez, Jose L" sort="Garcia Erez, Jose L" uniqKey="Garcia Erez J" first="José L." last="Garcia-Perez">José L. Garcia-Perez</name><name sortKey="Glover, Thomas W" sort="Glover, Thomas W" uniqKey="Glover T" first="Thomas W." last="Glover">Thomas W. Glover</name><name sortKey="Glover, Thomas W" sort="Glover, Thomas W" uniqKey="Glover T" first="Thomas W." last="Glover">Thomas W. Glover</name><name sortKey="Innis, Jeffrey W" sort="Innis, Jeffrey W" uniqKey="Innis J" first="Jeffrey W." last="Innis">Jeffrey W. Innis</name><name sortKey="Innis, Jeffrey W" sort="Innis, Jeffrey W" uniqKey="Innis J" first="Jeffrey W." last="Innis">Jeffrey W. Innis</name><name sortKey="Strouse, Peter" sort="Strouse, Peter" uniqKey="Strouse P" first="Peter" last="Strouse">Peter Strouse</name></country><country name="Espagne"><noRegion><name sortKey="Garcia Erez, Jose L" sort="Garcia Erez, Jose L" uniqKey="Garcia Erez J" first="José L." last="Garcia-Perez">José L. Garcia-Perez</name></noRegion></country><country name="Belgique"><region name="Région de Bruxelles-Capitale"><name sortKey="Brouillard, Pascal" sort="Brouillard, Pascal" uniqKey="Brouillard P" first="Pascal" last="Brouillard">Pascal Brouillard</name></region><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 004731 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 004731 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:462F6BB716DE82AF593123A9ED09591708BF939C
|texte= Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation
}}
| This area was generated with Dilib version V0.6.31. |  |