Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants

Autor:	Alexandre Reymond, Giuseppe Merla, Ali Fatemi, Rebecca McClellan, Hilary J. Vernon, P. De Nittis, Amy Goldstein, Nicolas Guex, Natascia Malerba, Julie S. Cohen
Přispěvatelé:	Vernon, H, Cohen, J, De Nittis, P, Fatemi, A, Mcclellan, R, Goldstein, A, Malerba, N, Guex, N, Reymond, A, Merla, G
Rok vydání:	2018
Předmět:	0301 basic medicine Genetics business.industry In silico Cardiac arrhythmia medicine.disease Compound heterozygosity Phenotype Developmental disorder 03 medical and health sciences 030104 developmental biology medicine Identification (biology) business Genetics (clinical)
Zdroj:	Clinical Genetics. 93:1254-1256
ISSN:	0009-9163
Popis:	Identification of a novel compound heterozygous of GNB5 in a patient with intellectual developmental disorder with cardiac arrhytmia (IDDCA), from non-consaguineous family. Three-dimensional modelling and in silico predictions suggest that GNB5 variants are causative of the phenotype, extending the number of IDDCA patients so far identified.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9674b5dc356c1f466b024abff921ef18 https://doi.org/10.1111/cge.13194 Zobrazit plný text záznamu Plný text