Paternally Inherited GABRB3 Intragenic Deletion in a Boy with Autistic Features and Angelman Syndrome Phenotype–Case Report and Literature Review / Krzysztof SZCZALUBA in Autism - Open Access, 6-3 ([01/05/2016])  

Public ISBD [article]  inAutism - Open Access > 6-3 [01/05/2016] . - 4 p. Titre : Paternally Inherited GABRB3 Intragenic Deletion in a Boy with Autistic Features and Angelman Syndrome Phenotype–Case Report and Literature Review Type de document : Texte imprimé et/ou numérique Auteurs : Krzysztof SZCZALUBA, Auteur ; Ilona JASZCZUK, Auteur ; Monika LEJMAN, Auteur ; Agata MAKAREWICZ, Auteur ; Renata KONCEWICZ, Auteur ; Urszula DEMKOW, Auteur Article en page(s) : 4 p. Langues : Anglais (eng) Mots-clés : GABRB3 gene  Copy-number variants  Single nucleotide variants  Angelman syndrome  Intellectual disability  Autism Index. décimale : PER Périodiques Résumé : We report on a 4 year old patient with a unique paternally inherited single-exon GABRB3 gene deletion and clinical findings of severe speech delay, intellectual disability, autistic features, unusual behavior, tremor, and history of seizures and gait abnormalities. Similarities and significant differences with other cases involving rearrangements of 15q11-q13 are discussed. Further on, we provide literature review of the clinical picture of GABRB3 mutations. En ligne : https://dx.doi.org/10.4172/2165-7890.1000182 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=410 [article] Paternally Inherited GABRB3 Intragenic Deletion in a Boy with Autistic Features and Angelman Syndrome Phenotype–Case Report and Literature Review [Texte imprimé et/ou numérique] / Krzysztof SZCZALUBA, Auteur ; Ilona JASZCZUK, Auteur ; Monika LEJMAN, Auteur ; Agata MAKAREWICZ, Auteur ; Renata KONCEWICZ, Auteur ; Urszula DEMKOW, Auteur . - 4 p. Langues : Anglais (eng) in Autism - Open Access > 6-3 [01/05/2016] . - 4 p. Mots-clés : GABRB3 gene  Copy-number variants  Single nucleotide variants  Angelman syndrome  Intellectual disability  Autism Index. décimale : PER Périodiques Résumé : We report on a 4 year old patient with a unique paternally inherited single-exon GABRB3 gene deletion and clinical findings of severe speech delay, intellectual disability, autistic features, unusual behavior, tremor, and history of seizures and gait abnormalities. Similarities and significant differences with other cases involving rearrangements of 15q11-q13 are discussed. Further on, we provide literature review of the clinical picture of GABRB3 mutations. En ligne : https://dx.doi.org/10.4172/2165-7890.1000182 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=410

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