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...

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Autori principali: Søvik, Oddmund, Schubbert, Suzanne, Houge, Gunnar, Steine, Solrun J, Norgård, Gunnar, Engelsen, Bernt, Njølstad, Pål R, Shannon, Kevin, Molven, Anders
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2007
Soggetti:
Online Mutation Report
Accesso online: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
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