Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation.
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ABSTRACT:
SUBMITTER: Patil SJ
PROVIDER: S-EPMC5548526 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Publications
Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with <i>MED12</i> Mutation.
Patil Siddaramappa J SJ Somashekar Puneeth H PH Shukla Anju A Siddaiah Satish S Bhat Venkatraman V Girisha Katta M KM Rao Pooja N PN
Journal of pediatric genetics 20170424 3
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 ( <i>MED12</i> ) gene. Here we report a familial OSMKB type with two affected siblings and mutation in <i>MED12</i> gene. ...[more]
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