Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4

Deletions of the chromosomal region 2q37 cause brachydactyly-mental retardation syndrome (BDMR), also known as Albright hereditary osteodystrophy-like syndrome. Recently, histone deacetylase 4 (HDAC4) haploinsufficiency has been postulated to be the critical genetic mechanism responsible for the mai...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: Villavicencio-Lorini, Pablo, Klopocki, Eva, Trimborn, Marc, Koll, Randi, Mundlos, Stefan, Horn, Denise
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2013
Assuntos:
Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3722943/
https://ncbi.nlm.nih.gov/pubmed/23188045
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.240
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares