Back to Search
Start Over
Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants
- Source :
- Clinical Genetics. 93:1254-1256
- Publication Year :
- 2018
- Publisher :
- Wiley, 2018.
-
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.
Details
- ISSN :
- 00099163
- Volume :
- 93
- Database :
- OpenAIRE
- Journal :
- Clinical Genetics
- Accession number :
- edsair.doi.dedup.....9674b5dc356c1f466b024abff921ef18