Article
Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Dec 2014
Ogura Kaeko, Takeshita Kenzo, Arakawa Chikako, Shimojima Keiko, Yamamoto Toshiyuki
Abstract excerpt
Patients with 2q37 deletions manifest brachydactyly mental retardation syndrome (BDMR). Recent advances in human molecular research have revealed that alterations in the histone deacetylase 4 gene (HDAC4) are responsible for the clinical manifestations of BDMR. Here, we report two male patients with 2q37.3 deletions. One of the patients showed a typical BDMR phenotype, and HDAC4 was included in the deletion...
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