Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals.
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Wheeler PG, Huang D, Dai Z
Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals.
Am J Med Genet A. 2014 Jul;164A(7):1826-9. doi: 10.1002/ajmg.a.36542. Epub 2014 Apr 8.
- PubMed ID
- 24715439 [ View in PubMed]
- 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.