Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.
Identifieur interne : 003857 ( PubMed/Corpus ); précédent : 003856; suivant : 003858Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.
Auteurs : Sarah Grotto ; Valérie Drouin-Garraud ; Katrin Ounap ; Helen Puusepp-Benazzouz ; Janneke Schuurs-Hoeijmakers ; Nathalie Le Meur ; Pascal Chambon ; Séverine Fehrenbach ; Hans Van Bokhoven ; Thierry Frébourg ; Arjan P M. De Brouwer ; Pascale Saugier-VeberSource :
- European journal of medical genetics [ 1878-0849 ] ; 2014.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Transcription Factors.
- chemical : Codon, Nonsense.
- genetics : Abnormalities, Multiple, Intellectual Disability, Megalencephaly.
- Adult, Base Sequence, Chromosomes, Human, X, DNA Mutational Analysis, Genetic Association Studies, Humans, Male, Pedigree, Young Adult.
Abstract
Truncating mutations of the BRWD3 gene have been reported in two distinct families with in total four patients so far. By using array-CGH, we detected a 74 Kb de novo deletion encompassing exons 11 through 41 of BRWD3 at Xq21.1 in a 20 year old boy presenting with syndromic intellectual disability. In addition, by using exome sequencing, we ascertained a family with a BRWD3 nonsense mutation, p.Tyr1131*, in four males with intellectual disability. We compared the clinical presentation of these five patients to that of the four patients already described in the literature for further delineation of the clinical spectrum in BRWD3-related intellectual disability. The main symptoms are mild to moderate intellectual disability (n = 9/9) with speech delay (n = 8/8), behavioral disturbances (n = 7/8), macrocephaly (n = 7/9), dysmorphic facial features (n = 9/9) including prominent forehead, pointed chin, deep-set eyes, abnormal ears, and broad hands and feet (n = 6/6), and skeletal symptoms (n = 7/7) like pes planus, scoliosis, kyphosis and cubitus valgus.
DOI: 10.1016/j.ejmg.2013.12.012
PubMed: 24462886
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.</title><author><name sortKey="Grotto, Sarah" sort="Grotto, Sarah" uniqKey="Grotto S" first="Sarah" last="Grotto">Sarah Grotto</name><affiliation><nlm:affiliation>Department of Genetics, Rouen University Hospital, Rouen, France.</nlm:affiliation></affiliation></author><author><name sortKey="Drouin Garraud, Valerie" sort="Drouin Garraud, Valerie" uniqKey="Drouin Garraud V" first="Valérie" last="Drouin-Garraud">Valérie Drouin-Garraud</name><affiliation><nlm:affiliation>Department of Genetics, Rouen University Hospital, Rouen, France.</nlm:affiliation></affiliation></author><author><name sortKey="Ounap, Katrin" sort="Ounap, Katrin" uniqKey="Ounap K" first="Katrin" last="Ounap">Katrin Ounap</name><affiliation><nlm:affiliation>Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, University of Tartu, Tartu, Estonia.</nlm:affiliation></affiliation></author><author><name sortKey="Puusepp Benazzouz, Helen" sort="Puusepp Benazzouz, Helen" uniqKey="Puusepp Benazzouz H" first="Helen" last="Puusepp-Benazzouz">Helen Puusepp-Benazzouz</name><affiliation><nlm:affiliation>Department of Pediatrics, University of Tartu, Tartu, Estonia; Department of Pediatrics, The Children's Hospital at Westmead, Sydney Children Hospital Network, Sydney, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Schuurs Hoeijmakers, Janneke" sort="Schuurs Hoeijmakers, Janneke" uniqKey="Schuurs Hoeijmakers J" first="Janneke" last="Schuurs-Hoeijmakers">Janneke Schuurs-Hoeijmakers</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Le Meur, Nathalie" sort="Le Meur, Nathalie" uniqKey="Le Meur N" first="Nathalie" last="Le Meur">Nathalie Le Meur</name><affiliation><nlm:affiliation>Department of Cytogenetics, EFS Normandie, Bois-Guillaume, France.</nlm:affiliation></affiliation></author><author><name sortKey="Chambon, Pascal" sort="Chambon, Pascal" uniqKey="Chambon P" first="Pascal" last="Chambon">Pascal Chambon</name><affiliation><nlm:affiliation>Department of Cytogenetics and Reproductive Biology, Rouen University Hospital, Rouen, France.</nlm:affiliation></affiliation></author><author><name sortKey="Fehrenbach, Severine" sort="Fehrenbach, Severine" uniqKey="Fehrenbach S" first="Séverine" last="Fehrenbach">Séverine Fehrenbach</name><affiliation><nlm:affiliation>Department of Genetics, Rouen University Hospital, Rouen, France.</nlm:affiliation></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Frebourg, Thierry" sort="Frebourg, Thierry" uniqKey="Frebourg T" first="Thierry" last="Frébourg">Thierry Frébourg</name><affiliation><nlm:affiliation>Department of Genetics, Rouen University Hospital, Rouen, France; Inserm U1079, Rouen, France; Normandie University, IRIB, Rouen, France.</nlm:affiliation></affiliation></author><author><name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P M" last="De Brouwer">Arjan P M. De Brouwer</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Saugier Veber, Pascale" sort="Saugier Veber, Pascale" uniqKey="Saugier Veber P" first="Pascale" last="Saugier-Veber">Pascale Saugier-Veber</name><affiliation><nlm:affiliation>Department of Genetics, Rouen University Hospital, Rouen, France; Inserm U1079, Rouen, France; Normandie University, IRIB, Rouen, France. Electronic address: Pascale.Saugier-Veber@chu-rouen.fr.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:24462886</idno><idno type="pmid">24462886</idno><idno type="doi">10.1016/j.ejmg.2013.12.012</idno><idno type="wicri:Area/PubMed/Corpus">003857</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003857</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.</title><author><name sortKey="Grotto, Sarah" sort="Grotto, Sarah" uniqKey="Grotto S" first="Sarah" last="Grotto">Sarah Grotto</name><affiliation><nlm:affiliation>Department of Genetics, Rouen University Hospital, Rouen, France.</nlm:affiliation></affiliation></author><author><name sortKey="Drouin Garraud, Valerie" sort="Drouin Garraud, Valerie" uniqKey="Drouin Garraud V" first="Valérie" last="Drouin-Garraud">Valérie Drouin-Garraud</name><affiliation><nlm:affiliation>Department of Genetics, Rouen University Hospital, Rouen, France.</nlm:affiliation></affiliation></author><author><name sortKey="Ounap, Katrin" sort="Ounap, Katrin" uniqKey="Ounap K" first="Katrin" last="Ounap">Katrin Ounap</name><affiliation><nlm:affiliation>Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, University of Tartu, Tartu, Estonia.</nlm:affiliation></affiliation></author><author><name sortKey="Puusepp Benazzouz, Helen" sort="Puusepp Benazzouz, Helen" uniqKey="Puusepp Benazzouz H" first="Helen" last="Puusepp-Benazzouz">Helen Puusepp-Benazzouz</name><affiliation><nlm:affiliation>Department of Pediatrics, University of Tartu, Tartu, Estonia; Department of Pediatrics, The Children's Hospital at Westmead, Sydney Children Hospital Network, Sydney, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Schuurs Hoeijmakers, Janneke" sort="Schuurs Hoeijmakers, Janneke" uniqKey="Schuurs Hoeijmakers J" first="Janneke" last="Schuurs-Hoeijmakers">Janneke Schuurs-Hoeijmakers</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Le Meur, Nathalie" sort="Le Meur, Nathalie" uniqKey="Le Meur N" first="Nathalie" last="Le Meur">Nathalie Le Meur</name><affiliation><nlm:affiliation>Department of Cytogenetics, EFS Normandie, Bois-Guillaume, France.</nlm:affiliation></affiliation></author><author><name sortKey="Chambon, Pascal" sort="Chambon, Pascal" uniqKey="Chambon P" first="Pascal" last="Chambon">Pascal Chambon</name><affiliation><nlm:affiliation>Department of Cytogenetics and Reproductive Biology, Rouen University Hospital, Rouen, France.</nlm:affiliation></affiliation></author><author><name sortKey="Fehrenbach, Severine" sort="Fehrenbach, Severine" uniqKey="Fehrenbach S" first="Séverine" last="Fehrenbach">Séverine Fehrenbach</name><affiliation><nlm:affiliation>Department of Genetics, Rouen University Hospital, Rouen, France.</nlm:affiliation></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Frebourg, Thierry" sort="Frebourg, Thierry" uniqKey="Frebourg T" first="Thierry" last="Frébourg">Thierry Frébourg</name><affiliation><nlm:affiliation>Department of Genetics, Rouen University Hospital, Rouen, France; Inserm U1079, Rouen, France; Normandie University, IRIB, Rouen, France.</nlm:affiliation></affiliation></author><author><name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P M" last="De Brouwer">Arjan P M. De Brouwer</name><affiliation><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Saugier Veber, Pascale" sort="Saugier Veber, Pascale" uniqKey="Saugier Veber P" first="Pascale" last="Saugier-Veber">Pascale Saugier-Veber</name><affiliation><nlm:affiliation>Department of Genetics, Rouen University Hospital, Rouen, France; Inserm U1079, Rouen, France; Normandie University, IRIB, Rouen, France. Electronic address: Pascale.Saugier-Veber@chu-rouen.fr.</nlm:affiliation></affiliation></author></analytic><series><title level="j">European journal of medical genetics</title><idno type="eISSN">1878-0849</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (genetics)</term><term>Adult</term><term>Base Sequence</term><term>Chromosomes, Human, X</term><term>Codon, Nonsense</term><term>DNA Mutational Analysis</term><term>Genetic Association Studies</term><term>Humans</term><term>Intellectual Disability (genetics)</term><term>Male</term><term>Megalencephaly (genetics)</term><term>Pedigree</term><term>Transcription Factors (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Transcription Factors</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Codon, Nonsense</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term><term>Intellectual Disability</term><term>Megalencephaly</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Base Sequence</term><term>Chromosomes, Human, X</term><term>DNA Mutational Analysis</term><term>Genetic Association Studies</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Truncating mutations of the BRWD3 gene have been reported in two distinct families with in total four patients so far. By using array-CGH, we detected a 74 Kb de novo deletion encompassing exons 11 through 41 of BRWD3 at Xq21.1 in a 20 year old boy presenting with syndromic intellectual disability. In addition, by using exome sequencing, we ascertained a family with a BRWD3 nonsense mutation, p.Tyr1131*, in four males with intellectual disability. We compared the clinical presentation of these five patients to that of the four patients already described in the literature for further delineation of the clinical spectrum in BRWD3-related intellectual disability. The main symptoms are mild to moderate intellectual disability (n = 9/9) with speech delay (n = 8/8), behavioral disturbances (n = 7/8), macrocephaly (n = 7/9), dysmorphic facial features (n = 9/9) including prominent forehead, pointed chin, deep-set eyes, abnormal ears, and broad hands and feet (n = 6/6), and skeletal symptoms (n = 7/7) like pes planus, scoliosis, kyphosis and cubitus valgus.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">24462886</PMID><DateCreated><Year>2014</Year><Month>04</Month><Day>28</Day></DateCreated><DateCompleted><Year>2014</Year><Month>12</Month><Day>09</Day></DateCompleted><DateRevised><Year>2014</Year><Month>04</Month><Day>28</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1878-0849</ISSN><JournalIssue CitedMedium="Internet"><Volume>57</Volume><Issue>5</Issue><PubDate><Year>2014</Year><Month>Apr</Month></PubDate></JournalIssue><Title>European journal of medical genetics</Title><ISOAbbreviation>Eur J Med Genet</ISOAbbreviation></Journal><ArticleTitle>Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.</ArticleTitle><Pagination><MedlinePgn>200-6</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.ejmg.2013.12.012</ELocationID><ELocationID EIdType="pii" ValidYN="Y">S1769-7212(14)00017-2</ELocationID><Abstract><AbstractText>Truncating mutations of the BRWD3 gene have been reported in two distinct families with in total four patients so far. By using array-CGH, we detected a 74 Kb de novo deletion encompassing exons 11 through 41 of BRWD3 at Xq21.1 in a 20 year old boy presenting with syndromic intellectual disability. In addition, by using exome sequencing, we ascertained a family with a BRWD3 nonsense mutation, p.Tyr1131*, in four males with intellectual disability. We compared the clinical presentation of these five patients to that of the four patients already described in the literature for further delineation of the clinical spectrum in BRWD3-related intellectual disability. The main symptoms are mild to moderate intellectual disability (n = 9/9) with speech delay (n = 8/8), behavioral disturbances (n = 7/8), macrocephaly (n = 7/9), dysmorphic facial features (n = 9/9) including prominent forehead, pointed chin, deep-set eyes, abnormal ears, and broad hands and feet (n = 6/6), and skeletal symptoms (n = 7/7) like pes planus, scoliosis, kyphosis and cubitus valgus.</AbstractText><CopyrightInformation>Copyright © 2014 Elsevier Masson SAS. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Grotto</LastName><ForeName>Sarah</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Genetics, Rouen University Hospital, Rouen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Drouin-Garraud</LastName><ForeName>Valérie</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Department of Genetics, Rouen University Hospital, Rouen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ounap</LastName><ForeName>Katrin</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, University of Tartu, Tartu, Estonia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Puusepp-Benazzouz</LastName><ForeName>Helen</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, University of Tartu, Tartu, Estonia; Department of Pediatrics, The Children's Hospital at Westmead, Sydney Children Hospital Network, Sydney, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schuurs-Hoeijmakers</LastName><ForeName>Janneke</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Le Meur</LastName><ForeName>Nathalie</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Department of Cytogenetics, EFS Normandie, Bois-Guillaume, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chambon</LastName><ForeName>Pascal</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Cytogenetics and Reproductive Biology, Rouen University Hospital, Rouen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fehrenbach</LastName><ForeName>Séverine</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Genetics, Rouen University Hospital, Rouen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>van Bokhoven</LastName><ForeName>Hans</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Frébourg</LastName><ForeName>Thierry</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Department of Genetics, Rouen University Hospital, Rouen, France; Inserm U1079, Rouen, France; Normandie University, IRIB, Rouen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>de Brouwer</LastName><ForeName>Arjan P M</ForeName><Initials>AP</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Saugier-Veber</LastName><ForeName>Pascale</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Genetics, Rouen University Hospital, Rouen, France; Inserm U1079, Rouen, France; Normandie University, IRIB, Rouen, France. Electronic address: Pascale.Saugier-Veber@chu-rouen.fr.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2014</Year><Month>01</Month><Day>22</Day></ArticleDate></Article><MedlineJournalInfo><Country>Netherlands</Country><MedlineTA>Eur J Med Genet</MedlineTA><NlmUniqueID>101247089</NlmUniqueID><ISSNLinking>1769-7212</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C502037">BRWD3 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D018389">Codon, Nonsense</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D014157">Transcription Factors</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000015" MajorTopicYN="N">Abnormalities, Multiple</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001483" MajorTopicYN="N">Base Sequence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D041321" MajorTopicYN="N">Chromosomes, Human, X</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018389" MajorTopicYN="N">Codon, Nonsense</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D056726" MajorTopicYN="N">Genetic Association Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008607" MajorTopicYN="N">Intellectual Disability</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D058627" MajorTopicYN="N">Megalencephaly</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D014157" MajorTopicYN="N">Transcription Factors</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D055815" MajorTopicYN="N">Young Adult</DescriptorName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">BRWD3</Keyword><Keyword MajorTopicYN="N">Intellectual disability</Keyword><Keyword MajorTopicYN="N">Macrocephaly</Keyword><Keyword MajorTopicYN="N">Xq21.1 deletion</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2013</Year><Month>05</Month><Day>22</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2013</Year><Month>12</Month><Day>31</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>1</Month><Day>28</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>1</Month><Day>28</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2014</Year><Month>12</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">24462886</ArticleId><ArticleId IdType="pii">S1769-7212(14)00017-2</ArticleId><ArticleId IdType="doi">10.1016/j.ejmg.2013.12.012</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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