Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation.

ABSTRACT: Ohdo syndrome-Maat-Kievit-Brunner (OSMKB) type is an X-linked recessive disorder, a subtype of blepharophimosis-intellectual disability syndromes caused by mutations in the mediator complex subunit 12 ( MED12 ) gene. Here we report a familial OSMKB type with two affected siblings and mutation in MED12 gene.

SUBMITTER: Patil SJ 

PROVIDER: S-EPMC5548526 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature