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.

Details

Request a copy

Serval ID

serval:BIB_78C45F133C17

Type

Article: article from journal or magazin.

Publication sub-type

Letter (letter): Communication to the publisher.

Collection

Publications

Institution

UNIL/CHUV

Title

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

Journal

Clinical Genetics

Author(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

Publication state

Published

Issued date

2018

Peer-reviewed

Oui

Volume

Number

Pages

1254-1256

Language

english

Abstract

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.

Keywords

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

Create date

01/02/2018 20:38