Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.
Sureni V MullegamaSteven D KleinRebecca H Signernull nullEric VilainJulian A MartinezPublished in: Molecular genetics & genomic medicine (2018)
We conclude that mutations in STAG2 cause a novel constellation of sex-specific cohesinopathy-related phenotypes and are furthermore, essential for neurodevelopment, human growth, and behavioral development.