Article
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.
American journal of medical genetics. Part A - 1 Dec 2015
Langley Katherine G, Brown Jordan, Gerber Richard J, Fox Janelle, Friez Michael J, Lyons Michael, Schrier Vergano Samantha A
Abstract excerpt
Intellectual disability (ID) is estimated to affect 1-3% of the general population and is a common reason for referrals to pediatric and adult geneticists, as well as neurologists. There are many genetic and non-genetic causes of ID; X-linked forms are identifiable through their characteristic inheritance pattern. Current testing methods have been able to identify over 100 genes on the X chromosome responsible...
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