Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3 Article

publication date

August 26, 2021

webpage

Web of Science

published in

AMERICAN JOURNAL OF MEDICAL GENETICS PART A Journal

keywords

ASXL3
ASXL3-related syndrome
BRPS
Bainbridge-Ropers syndrome
intellectual disability
speech impairment