A carregar...

Mutation in NRAS in familial Noonan syndrome – case report and review of the literature

BACKGROUND: Noonan syndrome (NS), a heterogeneous developmental disorder associated with variable clinical expression including short stature, congenital heart defect, unusual pectus deformity and typical facial features, is caused by activating mutations in genes involved in the RAS-MAPK signaling...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Ekvall, Sara, Wilbe, Maria, Dahlgren, Jovanna, Legius, Eric, van Haeringen, Arie, Westphal, Otto, Annerén, Göran, Bondeson, Marie-Louise
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4607013/
https://ncbi.nlm.nih.gov/pubmed/26467218
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0239-1
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!