Vestibular dysfunction is a manifestation of 22q11.2 deletion syndrome.
Identifieur interne : 000183 ( Main/Exploration ); précédent : 000182; suivant : 000184Vestibular dysfunction is a manifestation of 22q11.2 deletion syndrome.
Auteurs : Annelore Willaert [Belgique] ; Charlotte Van Eynde [Belgique] ; Nicolas Verhaert [Belgique] ; Christian Desloovere [Belgique] ; Vincent Vander Poorten [Belgique] ; Koenraad Devriendt [Belgique] ; Ann Swillen [Belgique] ; Greet Hens [Belgique]Source :
- American journal of medical genetics. Part A [ 1552-4833 ] ; 2019.
Descripteurs français
- KwdFr :
- Adolescent (MeSH), Adulte (MeSH), Animaux (MeSH), Enfant (MeSH), Femelle (MeSH), Humains (MeSH), Jeune adulte (MeSH), Labyrinthe vestibulaire (physiopathologie), Mâle (MeSH), Potentiels évoqués auditifs (MeSH), Potentiels évoqués vestibulaires myogéniques (MeSH), Protéines à domaine boîte-T (génétique), Souris (MeSH), Syndrome de DiGeorge (diagnostic), Syndrome de DiGeorge (génétique), Syndrome de DiGeorge (physiopathologie), Évaluation des symptômes (MeSH).
- MESH :
- diagnostic : Syndrome de DiGeorge.
- génétique : Protéines à domaine boîte-T, Syndrome de DiGeorge.
- physiopathologie : Labyrinthe vestibulaire, Syndrome de DiGeorge.
- Adolescent, Adulte, Animaux, Enfant, Femelle, Humains, Jeune adulte, Mâle, Potentiels évoqués auditifs, Potentiels évoqués vestibulaires myogéniques, Souris, Évaluation des symptômes.
English descriptors
- KwdEn :
- Adolescent (MeSH), Adult (MeSH), Animals (MeSH), Child (MeSH), DiGeorge Syndrome (diagnosis), DiGeorge Syndrome (genetics), DiGeorge Syndrome (physiopathology), Evoked Potentials, Auditory (MeSH), Female (MeSH), Humans (MeSH), Male (MeSH), Mice (MeSH), Symptom Assessment (MeSH), T-Box Domain Proteins (genetics), Vestibular Evoked Myogenic Potentials (MeSH), Vestibule, Labyrinth (physiopathology), Young Adult (MeSH).
- MESH :
- chemical , genetics : T-Box Domain Proteins.
- diagnosis : DiGeorge Syndrome.
- genetics : DiGeorge Syndrome.
- physiopathology : DiGeorge Syndrome, Vestibule, Labyrinth.
- Adolescent, Adult, Animals, Child, Evoked Potentials, Auditory, Female, Humans, Male, Mice, Symptom Assessment, Vestibular Evoked Myogenic Potentials, Young Adult.
Abstract
The 22q11.2 deletion syndrome (22q11.2DS) is the second most common cause of developmental delay after Down syndrome. Impaired cognitive development is highly prevalent, but also motor abnormalities such as hypotonia and delays in achieving motor milestones are described. Instability is frequently detected in children, adolescents, and adults and is mostly attributed to their limited motor performance. Until now, vestibular function has not been investigated in these patients, despite the growing evidence that they often have inner ear malformations. The aim of this prospective study was to identify the presence and character of vestibular dysfunction in 22q11.2DS. We investigated 23 subjects with proven 22q11.2DS, older than the age of 12. We performed caloric testing and pendular rotation chair tests with videonystagmography, cervical vestibular-evoked myogenic potential (c-VEMP)-testing, and posturography. Additional otoscopy and audiometry were performed on all subjects. We found a unilateral caloric hypofunction in 55% of patients, a certain absent c-VEMP response in 15% of ears, an inconclusive c-VEMP response in 33% of ears, and abnormal posturography in 68% of patients, of whom 42% displayed a typical vestibular pattern. Remarkably, 90% revealed uni- or bilateral weak caloric responses, independent of caloric symmetry. Vestibular dysfunction is frequent in subjects with 22q11.2DS. This knowledge should be taken into account when assessing motor performance in these patients. Additional larger studies are needed to determine whether this dysfunction implicates a therapeutic potential.
DOI: 10.1002/ajmg.a.7
PubMed: 30635960
Affiliations:
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University of Leuven, ExpORL, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Neurosciences, KU Leuven - University of Leuven, ExpORL, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Van Eynde, Charlotte" sort="Van Eynde, Charlotte" uniqKey="Van Eynde C" first="Charlotte" last="Van Eynde">Charlotte Van Eynde</name><affiliation wicri:level="1"><nlm:affiliation>Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Verhaert, Nicolas" sort="Verhaert, Nicolas" uniqKey="Verhaert N" first="Nicolas" last="Verhaert">Nicolas Verhaert</name><affiliation wicri:level="1"><nlm:affiliation>Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:affiliation>Department of Neurosciences, KU Leuven - University of Leuven, ExpORL, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Neurosciences, KU Leuven - University of Leuven, ExpORL, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Desloovere, Christian" sort="Desloovere, Christian" uniqKey="Desloovere C" first="Christian" last="Desloovere">Christian Desloovere</name><affiliation wicri:level="1"><nlm:affiliation>Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Vander Poorten, Vincent" sort="Vander Poorten, Vincent" uniqKey="Vander Poorten V" first="Vincent" last="Vander Poorten">Vincent Vander Poorten</name><affiliation wicri:level="1"><nlm:affiliation>Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Devriendt, Koenraad" sort="Devriendt, Koenraad" uniqKey="Devriendt K" first="Koenraad" last="Devriendt">Koenraad Devriendt</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, University of Leuven, Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Human Genetics, University of Leuven, Centre for Human Genetics, University Hospitals Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Swillen, Ann" sort="Swillen, Ann" uniqKey="Swillen A" first="Ann" last="Swillen">Ann Swillen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, University of Leuven, Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Human Genetics, University of Leuven, Centre for Human Genetics, University Hospitals Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Hens, Greet" sort="Hens, Greet" uniqKey="Hens G" first="Greet" last="Hens">Greet Hens</name><affiliation wicri:level="1"><nlm:affiliation>Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author></analytic><series><title level="j">American journal of medical genetics. Part A</title><idno type="eISSN">1552-4833</idno><imprint><date when="2019" type="published">2019</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent (MeSH)</term><term>Adult (MeSH)</term><term>Animals (MeSH)</term><term>Child (MeSH)</term><term>DiGeorge Syndrome (diagnosis)</term><term>DiGeorge Syndrome (genetics)</term><term>DiGeorge Syndrome (physiopathology)</term><term>Evoked Potentials, Auditory (MeSH)</term><term>Female (MeSH)</term><term>Humans (MeSH)</term><term>Male (MeSH)</term><term>Mice (MeSH)</term><term>Symptom Assessment (MeSH)</term><term>T-Box Domain Proteins (genetics)</term><term>Vestibular Evoked Myogenic Potentials (MeSH)</term><term>Vestibule, Labyrinth (physiopathology)</term><term>Young Adult (MeSH)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent (MeSH)</term><term>Adulte (MeSH)</term><term>Animaux (MeSH)</term><term>Enfant (MeSH)</term><term>Femelle (MeSH)</term><term>Humains (MeSH)</term><term>Jeune adulte (MeSH)</term><term>Labyrinthe vestibulaire (physiopathologie)</term><term>Mâle (MeSH)</term><term>Potentiels évoqués auditifs (MeSH)</term><term>Potentiels évoqués vestibulaires myogéniques (MeSH)</term><term>Protéines à domaine boîte-T (génétique)</term><term>Souris (MeSH)</term><term>Syndrome de DiGeorge (diagnostic)</term><term>Syndrome de DiGeorge (génétique)</term><term>Syndrome de DiGeorge (physiopathologie)</term><term>Évaluation des symptômes (MeSH)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>T-Box Domain Proteins</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>DiGeorge Syndrome</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Syndrome de DiGeorge</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>DiGeorge Syndrome</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Protéines à domaine boîte-T</term><term>Syndrome de DiGeorge</term></keywords><keywords scheme="MESH" qualifier="physiopathologie" xml:lang="fr"><term>Labyrinthe vestibulaire</term><term>Syndrome de DiGeorge</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>DiGeorge Syndrome</term><term>Vestibule, Labyrinth</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Animals</term><term>Child</term><term>Evoked Potentials, Auditory</term><term>Female</term><term>Humans</term><term>Male</term><term>Mice</term><term>Symptom Assessment</term><term>Vestibular Evoked Myogenic Potentials</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Animaux</term><term>Enfant</term><term>Femelle</term><term>Humains</term><term>Jeune adulte</term><term>Mâle</term><term>Potentiels évoqués auditifs</term><term>Potentiels évoqués vestibulaires myogéniques</term><term>Souris</term><term>Évaluation des symptômes</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The 22q11.2 deletion syndrome (22q11.2DS) is the second most common cause of developmental delay after Down syndrome. Impaired cognitive development is highly prevalent, but also motor abnormalities such as hypotonia and delays in achieving motor milestones are described. Instability is frequently detected in children, adolescents, and adults and is mostly attributed to their limited motor performance. Until now, vestibular function has not been investigated in these patients, despite the growing evidence that they often have inner ear malformations. The aim of this prospective study was to identify the presence and character of vestibular dysfunction in 22q11.2DS. We investigated 23 subjects with proven 22q11.2DS, older than the age of 12. We performed caloric testing and pendular rotation chair tests with videonystagmography, cervical vestibular-evoked myogenic potential (c-VEMP)-testing, and posturography. Additional otoscopy and audiometry were performed on all subjects. We found a unilateral caloric hypofunction in 55% of patients, a certain absent c-VEMP response in 15% of ears, an inconclusive c-VEMP response in 33% of ears, and abnormal posturography in 68% of patients, of whom 42% displayed a typical vestibular pattern. Remarkably, 90% revealed uni- or bilateral weak caloric responses, independent of caloric symmetry. Vestibular dysfunction is frequent in subjects with 22q11.2DS. This knowledge should be taken into account when assessing motor performance in these patients. Additional larger studies are needed to determine whether this dysfunction implicates a therapeutic potential.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">30635960</PMID><DateCompleted><Year>2020</Year><Month>04</Month><Day>16</Day></DateCompleted><DateRevised><Year>2020</Year><Month>09</Month><Day>30</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1552-4833</ISSN><JournalIssue CitedMedium="Internet"><Volume>179</Volume><Issue>3</Issue><PubDate><Year>2019</Year><Month>03</Month></PubDate></JournalIssue><Title>American journal of medical genetics. Part A</Title><ISOAbbreviation>Am J Med Genet A</ISOAbbreviation></Journal><ArticleTitle>Vestibular dysfunction is a manifestation of 22q11.2 deletion syndrome.</ArticleTitle><Pagination><MedlinePgn>448-454</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/ajmg.a.7</ELocationID><Abstract><AbstractText>The 22q11.2 deletion syndrome (22q11.2DS) is the second most common cause of developmental delay after Down syndrome. Impaired cognitive development is highly prevalent, but also motor abnormalities such as hypotonia and delays in achieving motor milestones are described. Instability is frequently detected in children, adolescents, and adults and is mostly attributed to their limited motor performance. Until now, vestibular function has not been investigated in these patients, despite the growing evidence that they often have inner ear malformations. The aim of this prospective study was to identify the presence and character of vestibular dysfunction in 22q11.2DS. We investigated 23 subjects with proven 22q11.2DS, older than the age of 12. We performed caloric testing and pendular rotation chair tests with videonystagmography, cervical vestibular-evoked myogenic potential (c-VEMP)-testing, and posturography. Additional otoscopy and audiometry were performed on all subjects. We found a unilateral caloric hypofunction in 55% of patients, a certain absent c-VEMP response in 15% of ears, an inconclusive c-VEMP response in 33% of ears, and abnormal posturography in 68% of patients, of whom 42% displayed a typical vestibular pattern. Remarkably, 90% revealed uni- or bilateral weak caloric responses, independent of caloric symmetry. Vestibular dysfunction is frequent in subjects with 22q11.2DS. This knowledge should be taken into account when assessing motor performance in these patients. Additional larger studies are needed to determine whether this dysfunction implicates a therapeutic potential.</AbstractText><CopyrightInformation>© 2019 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Willaert</LastName><ForeName>Annelore</ForeName><Initials>A</Initials><Identifier Source="ORCID">0000-0002-1776-829X</Identifier><AffiliationInfo><Affiliation>Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Neurosciences, KU Leuven - University of Leuven, ExpORL, Leuven, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Van Eynde</LastName><ForeName>Charlotte</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Verhaert</LastName><ForeName>Nicolas</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Neurosciences, KU Leuven - University of Leuven, ExpORL, Leuven, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Desloovere</LastName><ForeName>Christian</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vander Poorten</LastName><ForeName>Vincent</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Devriendt</LastName><ForeName>Koenraad</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, University of Leuven, Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Swillen</LastName><ForeName>Ann</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, University of Leuven, Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hens</LastName><ForeName>Greet</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>FWO 1700317N</GrantID><Agency>Fonds Wetenschappelijk Onderzoek</Agency><Country>International</Country></Grant><Grant><GrantID>FWO 1700317N</GrantID><Agency>Flanders Research Foundation</Agency><Country>International</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2019</Year><Month>01</Month><Day>11</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Am J Med Genet A</MedlineTA><NlmUniqueID>101235741</NlmUniqueID><ISSNLinking>1552-4825</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D020825">T-Box Domain Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C108625">TBX1 protein, human</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000818" MajorTopicYN="N">Animals</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004062" MajorTopicYN="N">DiGeorge Syndrome</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000503" MajorTopicYN="Y">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005072" MajorTopicYN="N">Evoked Potentials, Auditory</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D051379" MajorTopicYN="N">Mice</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D063189" MajorTopicYN="N">Symptom Assessment</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020825" MajorTopicYN="N">T-Box Domain Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D058585" MajorTopicYN="N">Vestibular Evoked Myogenic Potentials</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D014722" MajorTopicYN="N">Vestibule, Labyrinth</DescriptorName><QualifierName UI="Q000503" MajorTopicYN="Y">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D055815" MajorTopicYN="N">Young Adult</DescriptorName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="Y">22q11 deletion syndrome</Keyword><Keyword MajorTopicYN="Y">balance disorder</Keyword><Keyword MajorTopicYN="Y">inner ear</Keyword><Keyword MajorTopicYN="Y">labyrinth</Keyword><Keyword MajorTopicYN="Y">motor development</Keyword><Keyword MajorTopicYN="Y">velocardiofacial syndrome</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2018</Year><Month>06</Month><Day>06</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2018</Year><Month>10</Month><Day>08</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2018</Year><Month>10</Month><Day>27</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2019</Year><Month>1</Month><Day>13</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2020</Year><Month>4</Month><Day>17</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2019</Year><Month>1</Month><Day>13</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">30635960</ArticleId><ArticleId IdType="doi">10.1002/ajmg.a.7</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Belgique</li></country></list><tree><country name="Belgique"><noRegion><name sortKey="Willaert, Annelore" sort="Willaert, Annelore" uniqKey="Willaert A" first="Annelore" last="Willaert">Annelore Willaert</name></noRegion><name sortKey="Desloovere, Christian" sort="Desloovere, Christian" uniqKey="Desloovere C" first="Christian" last="Desloovere">Christian Desloovere</name><name sortKey="Devriendt, Koenraad" sort="Devriendt, Koenraad" uniqKey="Devriendt K" first="Koenraad" last="Devriendt">Koenraad Devriendt</name><name sortKey="Hens, Greet" sort="Hens, Greet" uniqKey="Hens G" first="Greet" last="Hens">Greet Hens</name><name sortKey="Swillen, Ann" sort="Swillen, Ann" uniqKey="Swillen A" first="Ann" last="Swillen">Ann Swillen</name><name sortKey="Van Eynde, Charlotte" sort="Van Eynde, Charlotte" uniqKey="Van Eynde C" first="Charlotte" last="Van Eynde">Charlotte Van Eynde</name><name sortKey="Vander Poorten, Vincent" sort="Vander Poorten, Vincent" uniqKey="Vander Poorten V" first="Vincent" last="Vander Poorten">Vincent Vander Poorten</name><name sortKey="Verhaert, Nicolas" sort="Verhaert, Nicolas" uniqKey="Verhaert N" first="Nicolas" last="Verhaert">Nicolas Verhaert</name><name sortKey="Verhaert, Nicolas" sort="Verhaert, Nicolas" uniqKey="Verhaert N" first="Nicolas" last="Verhaert">Nicolas Verhaert</name><name sortKey="Willaert, Annelore" sort="Willaert, Annelore" uniqKey="Willaert A" first="Annelore" last="Willaert">Annelore Willaert</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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