Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

Brachydactyly mental retardation syndrome (BDMR) is associated with a deletion involving chromosome 2q37. BDMR presents with a range of features, including intellectual disabilities, developmental delays, behavioral abnormalities, sleep disturbance, craniofacial and skeletal abnormalities (including...

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Detalhes bibliográficos
Main Authors: Williams, Stephen R., Aldred, Micheala A., Der Kaloustian, Vazken M., Halal, Fahed, Gowans, Gordon, McLeod, D. Ross, Zondag, Sara, Toriello, Helga V., Magenis, R. Ellen, Elsea, Sarah H.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2917703/
https://ncbi.nlm.nih.gov/pubmed/20691407
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.07.011
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