Behavior of 10 patients with FG Syndrome (Opitz-Kaveggia Syndrome) and the p.R961W Mutation in the MED12 Gene

Opitz and Kaveggia [1974] reported on a family of five affected males with distinctive facial appearance, mental retardation, macrocephaly, imperforate anus and hypotonia. Risheg et al. [2007] identified an identical mutation (p.R961W) in MED12 in six families with Opitz-Kaveggia syndrome, including...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Graham, John M, Visootsak, Jeannie, Dykens, Elisabeth, Huddleston, Lillie, Clark, Robin D, Jones, Kenneth L, Moeschler, John B, Opitz, John M, Morford, Jackie, Simensen, Richard, Rogers, R. Curtis, Schwartz, Charles E, Friez, Michael J, Stevenson, Roger E
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3092600/
https://ncbi.nlm.nih.gov/pubmed/18973276
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32553
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados