Structural mapping of GABRB3 variants reveals genotype-phenotype correlations

Archive ouverte | Johannesen, K. M. | CCSD

International audience. PurposePathogenic variants in GABRB3 have been associated with a spectrum of phenotypes from severe developmental disorders and epileptic encephalopathies to milder epilepsy syndromes and mil...

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases

Archive ouverte | Baer, S. | CCSD

International audience. Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Follow...

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability

Archive ouverte | Mignot, C. | CCSD