Entry - *614802 - MSL COMPLEX SUBUNIT 2; MSL2 - OMIM This regulation by MSL2 appeared to be conserved in human cells Physiologically, loss of Msl2 impaired differentiation of NPCs to neurons, and Msl2 - - mice showed perinatal lethality and heterogeneous phenotypes during embryonic development, supporting a role for Msl2 in regulating gene dosage
MSL2 disruption leads to autism-like behaviors, impairs neurogenesis . . . Recent studies have implicated variants in components of the Male-Specific Lethal (MSL) complex, including MSL2, in NDD pathogenesis However, the pathogenic mechanisms underlying MSL2-related neurodevelopmental disorders remain poorly defined
MSL2 disruption leads to autism-like behaviors, impairs neurogenesis . . . Recent studies have implicated variants in components of the Male-Specific Lethal (MSL) complex, including MSL2, in NDD pathogenesis However, the pathogenic mechanisms underlying MSL2-related neurodevelopmental disorders remain poorly defined
MSL2 variants lead to a neurodevelopmental syndrome with lack of . . . Our study defines an MSL2 -related disorder as an NDD with distinguishable clinical features, a specific blood DNA episignature, and a distinct, MSL2-specific molecular etiology compared to other MSL complex-related disorders
MSL2 disruption leads to autism-like behaviors, impairs neurogenesis . . . Recent studies have implicated variants in components of the Male-Specific Lethal (MSL) complex, including MSL2, in NDD pathogenesis However, the pathogenic mechanisms underlying MSL2-related neurodevelopmental disorders remain poorly defined
MSL2 disruption leads to autism-like behaviors, impairs . . . - PubMed Recent studies have implicated variants in components of the Male-Specific Lethal (MSL) complex, including MSL2, in NDD pathogenesis However, the pathogenic mechanisms underlying MSL2-related neurodevelopmental disorders remain poorly defined
MSL2 variants lead to a neurodevelopmental syndrome with lack of . . . MSL2 encodes a member of the MSL complex, an epigenetic regulator acetylating histone H4 We identify MSL2 variants leading to a neurodevelopmental disorder with intellectual disability, developmental delay, motor issues, seizures, dysmorphisms, and a specific blood methylation episignature