De novo HRAS and KRAS mutations in two siblings with short stature and neuro‐cardio‐facio‐cutaneous features

Mutations in genes involved in Ras signalling cause Noonan syndrome and other disorders characterised by growth disturbances and variable neuro‐cardio‐facio‐cutaneous features. We describe two sisters, 46 and 31 years old, who presented with dysmorphic features, hypotonia, feeding difficulties, reta...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Søvik, Oddmund, Schubbert, Suzanne, Houge, Gunnar, Steine, Solrun J, Norgård, Gunnar, Engelsen, Bernt, Njølstad, Pål R, Shannon, Kevin, Molven, Anders
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Online Mutation Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2598016/
https://ncbi.nlm.nih.gov/pubmed/17601930
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.049361
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados