Associated Papers
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome.
Wakeling E et al.
Hgg Advances, 2021
33537682 (PubMed )
Supplement: mmc2.pdf
Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals.
Wheeler PG et al.
American Journal of Medical Genetics. Part A, 2014
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4.
Villavicencio-Lorini P et al.
European Journal of Human Genetics : Ejhg, 2013
Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.
Williams SR et al.
American Journal of Human Genetics, 2010
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