Clinical variability in familial X-Linked ohdo syndrome–Maat-Kievit-Brunner type with MED12 mutation

Somashekar, Puneeth H and Shukla, Anju and Girisha, KM (2017) Clinical variability in familial X-Linked ohdo syndrome–Maat-Kievit-Brunner type with MED12 mutation. Journal of Pediatric Genetics, 6 (3). pp. 198-203. ISSN 2146-4596

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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.

Item Type: Article
Uncontrolled Keywords: Ohdo syndrome– Maat-Kievit-Brunner type ;blepharophimosis; intellectual disability; congenital heart disease ;high-place winged scapula.
Subjects: Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 31 Aug 2017 09:09
Last Modified: 31 Aug 2017 09:09
URI: http://eprints.manipal.edu/id/eprint/149605

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