Mutations in RIT1 cause Noonan syndrome – additional functional evidence and expanding the clinical phenotype

RASopathies are a clinically heterogeneous group of conditions caused by mutations in one of sixteen proteins in the RAS-MAPK pathway. Recently, mutations in RIT1 were identified as a novel cause for Noonan syndrome. Here we provide additional functional evidence for a causal role of RIT1 mutations...

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Argitaratua izan da:Clin Genet
Egile Nagusiak: Koenighofer, Martin, Hung, Christina Y., McCauley, Jacob L., Dallman, Julia, Back, Emma J., Mihalek, Ivana, Gripp, Karen W., Sol-Church, Katia, Rusconi, Paolo, Zhang, Zhaiyi, Shi, Geng-Xian, Andres, Douglas A., Bodamer, Olaf A.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2015
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4760689/
https://ncbi.nlm.nih.gov/pubmed/25959749
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12608
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