Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy

Noonan syndrome (NS; MIM 163950) is an autosomal dominant disorder and a member of a family of developmental disorders termed “RASopathies,” which are caused mainly by gain-of-function mutations in genes encoding RAS/MAPK signaling pathway proteins. Whole exome sequencing (WES) and trio-based genomi...

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Detalhes bibliográficos
Publicado no:JCI Insight
Main Authors: Higgins, Erin M., Bos, J. Martijn, Mason-Suares, Heather, Tester, David J., Ackerman, Jaeger P., MacRae, Calum A., Sol-Church, Katia, Gripp, Karen W., Urrutia, Raul, Ackerman, Michael J.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5333962/
https://ncbi.nlm.nih.gov/pubmed/28289718
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.91225
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