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A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4

Brachydactyly mental retardation syndrome (BDMR) or chromosome 2q37 deletion syndrome is a genetic disorder caused by 2q37 deletion or haploinsufficiency of histone deacetylase 4 (HDAC4). The HDAC4 gene is responsible for major BDMR phenotypes. The symptoms of BDMR include mild-to-moderate intellect...

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Detalles Bibliográficos
Autores principales:	Takeyari, Shinji, Yamamoto, Kenichi, Fujiwara, Makoto, Ohata, Yasuhisa, Kitaoka, Taichi, Kubota, Takuo, Nagata, Miho, Ishihara, Yasuki, Miyashita, Yohei, Asano, Yoshihiro, Ozono, Keiichi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Japanese Society for Pediatric Endocrinology 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10068624/ https://www.ncbi.nlm.nih.gov/pubmed/37020696 http://dx.doi.org/10.1297/cpe.2022-0076

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