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

Vernon, H.; Cohen, J.; De Nittis, P.; Fatemi, A.; McClellan, R.; Goldstein, A.; Malerba, N.; Guex, N.; Reymond, A.; Merla, G.

doi:10.1111/cge.13194

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

Détails

Demande d'une copie

ID Serval

serval:BIB_78C45F133C17

Type

Article: article d'un périodique ou d'un magazine.

Sous-type

Lettre (letter): communication adressée à l'éditeur.

Collection

Publications

Institution

UNIL/CHUV

Titre

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

Périodique

Clinical Genetics

Auteur⸱e⸱s

Vernon H., Cohen J., De Nittis P., Fatemi A., McClellan R., Goldstein A., Malerba N., Guex N., Reymond A., Merla G.

ISSN

1399-0004 (Electronic)

ISSN-L

0009-9163

Statut éditorial

Publié

Date de publication

2018

Peer-reviewed

Oui

Volume

Numéro

Pages

1254-1256

Langue

anglais

Résumé

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.

Mots-clé

GNB5, ID, IDDCA, LADCI, cardiac arrhythmia

OAI-PMH

oai:serval.unil.ch:BIB_78C45F133C17

DOI

10.1111/cge.13194

Pubmed

29368331

Web of science

000431979100020

Création de la notice

01/02/2018 20:38