Article
Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals.
American journal of medical genetics. Part A - 1 Jul 2014
Wheeler Patricia G, Huang Dongli, Dai Zunyan
Abstract excerpt
Haploinsufficiency of HDAC4 gene has been reported to result in brachydactyly-"mental retardation" syndrome (BDMR), a condition with significant intellectual impairment, brachydactyly type E, and typical facial features. Presented here are three individuals with haploinsufficiency of HDAC4 who have brachydactyly type E, non-dysmorphic facial features, and normal intelligence. This is in contradistinction to...
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