Clinical Variability in Familial X-Linked Ohdo Syndrome–Maat-Kievit-Brunner Type with MED12 Mutation
Journal of Pediatric Genetics
,
Volume 6,
pp 198-204; doi:10.1055/s-0037-1602386
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.
Keywords: Blepharophimosis / congenital heart disease / intellectual disability / High-place Winged Scapula / Ohdo syndrome–Maat-Kievit-Brunner type
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