Clin Genet.: co-auth.: group Reymond

 2018 Jan 25. doi: 10.1111/cge.13194. [Epub ahead of print]

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


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.


GNB5; ID; IDDCA; LADCI; cardiac arrhythmia

PMID: 29368331