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Case Reports
. 2014 Jul;164A(7):1826-9.
doi: 10.1002/ajmg.a.36542. Epub 2014 Apr 8.

Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals

Patricia G Wheeler  1 , Dongli Huang, Zunyan Dai
Affiliations
Case Reports

Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals

Patricia G Wheeler et al. Am J Med Genet A. 2014 Jul.

Abstract

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 previous reports that haploinsufficiency of HDAC4 is sufficient to cause BDMR.

Keywords: 2q37.3; BDMR; HDAC4; brachydactyly.

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