Mutations in STAG2 cause an X ‐linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males

ConclusionWe conclude that mutations inSTAG2 cause a novel constellation of sex ‐specific cohesinopathy‐related phenotypes and are furthermore, essential for neurodevelopment, human growth, and behavioral development.

Source: Molecular Genetics & Genomic Medicine - November 16, 2018 Category: Genetics & Stem Cells Authors: Sureni V. Mullegama, Steven D. Klein, Rebecca H. Signer, UCLA Clinical Genomics Center, Eric Vilain, Julian A. Martinez ‐Agosto Tags: CLINICAL REPORT Source Type: research