Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome - Cogliati F, Straniero L, Rimoldi V, Masciadri M, Perego S, Rinaldi B, Milani D, Gentilini D, Larizza L, Asselta R, Russo S, Bedeschi MF.

Loss-of-function CHD2 (chromodomain helicase DNA-binding protein 2) mutations are associated with a spectrum of neurodevelopmental disorders often including early-onset generalized seizures, photosensitivity, and epileptic encephalopathies. Patients show p...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news