Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene.
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| Title: | Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene. |
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| Authors: | Margot H; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France., Pizano A; Aquitaine Autism Resources Centre, Centre Hospitalier Charles-Perrens, University Pole of Child and Adolescent Psychiatry, Bordeaux, France., Amestoy A; Aquitaine Autism Resources Centre, Centre Hospitalier Charles-Perrens, University Pole of Child and Adolescent Psychiatry, Bordeaux, France., Lacombe D; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France., Berges C; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France., Beneteau C; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France., Innes AM; Department of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada. |
| Source: | American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2024 Dec; Vol. 196 (4), pp. e32087. Date of Electronic Publication: 2024 Apr 09. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 38591859 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Margot+H%22">Margot H</searchLink>; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Pizano+A%22">Pizano A</searchLink>; Aquitaine Autism Resources Centre, Centre Hospitalier Charles-Perrens, University Pole of Child and Adolescent Psychiatry, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Amestoy+A%22">Amestoy A</searchLink>; Aquitaine Autism Resources Centre, Centre Hospitalier Charles-Perrens, University Pole of Child and Adolescent Psychiatry, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Lacombe+D%22">Lacombe D</searchLink>; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Berges+C%22">Berges C</searchLink>; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Beneteau+C%22">Beneteau C</searchLink>; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Innes+AM%22">Innes AM</searchLink>; Department of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235745%22">American journal of medical genetics. Part C, Seminars in medical genetics</searchLink> [Am J Med Genet C Semin Med Genet] 2024 Dec; Vol. 196 (4), pp. e32087. <i>Date of Electronic Publication: </i>2024 Apr 09. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235745 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4876 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524868%22">15524868 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet C Semin Med Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=38591859 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.c.32087 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e32087 Titles: – TitleFull: Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Margot H – PersonEntity: Name: NameFull: Pizano A – PersonEntity: Name: NameFull: Amestoy A – PersonEntity: Name: NameFull: Lacombe D – PersonEntity: Name: NameFull: Berges C – PersonEntity: Name: NameFull: Beneteau C – PersonEntity: Name: NameFull: Innes AM IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 12 Text: 2024 Dec Type: published Y: 2024 Identifiers: – Type: issn-electronic Value: 1552-4876 Numbering: – Type: volume Value: 196 – Type: issue Value: 4 Titles: – TitleFull: American journal of medical genetics. Part C, Seminars in medical genetics Type: main |
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