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...

Descripción completa

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

Internet

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

Ejemplares similares