Ontology highlight
ABSTRACT:
SUBMITTER: Cuddapah VA
PROVIDER: S-EPMC8842511 | biostudies-literature | 2021 Jun
REPOSITORIES: biostudies-literature
Cuddapah Vishnu Anand VA Dubbs Holly A HA Adang Laura L Kugler Steven L SL McCormick Elizabeth M EM Zolkipli-Cunningham Zarazuela Z Ortiz-González Xilma R XR McCormack Shana S Zackai Elaine E Licht Daniel J DJ Falk Marni J MJ Marsh Eric D ED
American journal of medical genetics. Part A 20210310 6
Over the past decade, pathogenic variants in all members of the ASXL family of genes, ASXL1, ASXL2, and ASXL3, have been found to lead to clinically distinct but overlapping syndromes. Bohring-Opitz syndrome (BOPS) was first described as a clinical syndrome and later found to be associated with pathogenic variants in ASXL1. This syndrome is characterized by developmental delay, microcephaly, characteristic facies, hypotonia, and feeding difficulties. Subsequently, pathogenic variants in ASXL2 we ...[more]