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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| ISSN: | 1552-4876 |
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| DOI: | 10.1002/ajmg.c.32087 |
