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...

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Detalles Bibliográficos
Autores principales: Ekvall, Sara, Wilbe, Maria, Dahlgren, Jovanna, Legius, Eric, van Haeringen, Arie, Westphal, Otto, Annerén, Göran, Bondeson, Marie-Louise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4607013/
https://www.ncbi.nlm.nih.gov/pubmed/26467218
http://dx.doi.org/10.1186/s12881-015-0239-1

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