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Mutations in MED12 cause X-linked Ohdo syndrome. – Abstract – Europe PMC
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Clinically, these blepharophimosis-ID syndromes have been classified in five distinct subgroups, including the Maat-Kievit-Brunner MKB type, which, in contrast to the others, is characterized by X-linked inheritance and facial coarsening at older age. Amazon Second Chance Pass it on, trade it in, give it a second life. Shopbop Designer Fashion Brands. We performed exome sequencing in two families, each with two affected males with Ohdo syndrome MKB type.
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SerPro] segregating with the phenotype were identified. Amazon Inspire Digital Educational Resources.