Condition: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42


rs1553194162 in GNB1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

PMID 28087732 2017 Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.

PMID 25485910 2015 Mutations in G protein β subunits promote transformation and kinase inhibitor resistance.

PMID 27668284 2016 Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.

PMID 30194818 2018 Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.