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.
DOIAbstract
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