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

Details

Serval ID
serval:BIB_78C45F133C17
Type
Article: article from journal or magazin.
Publication sub-type
Letter (letter): Communication to the publisher.
Collection
Publications
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
93
Number
6
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
Pubmed
Web of science
Create date
01/02/2018 21:38
Last modification date
20/08/2019 15:35
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