Ontology highlight
ABSTRACT:
SUBMITTER: Mullegama SV
PROVIDER: S-EPMC4989212 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Mullegama Sureni V SV Elsea Sarah H SH
European journal of human genetics : EJHG 20160525 9
MBD5-associated neurodevelopmental disorder (MAND) is an umbrella term that describes a group of disorders, 2q23.1 deletion syndrome, 2q23.1 duplication syndrome, and MBD5 variants, that affect the function of methyl-binding domain 5 (MBD5) and share a common set of neurodevelopmental, cognitive, and behavioral impairments. This review provides a comprehensive clinical and molecular synopsis of 2q23.1 deletion syndrome. Approaches to diagnosis, genetic counseling, and up-to-date management are s ...[more]