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Are you an author? Find all citations in this journal default. Alexa Actionable Analytics for the Web. In the two families, MED12 missense mutations c.
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We performed exome sequencing in hoichen families, each with two affected males with Ohdo syndrome MKB type.
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Mutations in MED12 cause X-linked Ohdo syndrome. – Abstract – Europe PMC
Upon subsequent analysis of an additional cohort of nine simplex male individuals with Ohdo syndrome, one additional de novo missense change c. Please try your request again later. Get to Know Us. Abstract Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability ID and typical facial features, hhans blepharophimosis.
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All Formats Paperback Hardcover Sort by: Withoutabox Submit to Film Festivals. American Journal of Human Genetics [07 Feb92 3: