Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1‐associated Noonan syndrome: Expanding the phenotype and review of the literature

BACKGROUND: Noonan syndrome is an autosomal dominant disorder secondary to RASopathies, which are caused by germ‐line mutations in genes encoding components of the RAS mitogen‐activated protein kinase pathway. RIT1 (OMIM *609591) was recently reported as a disease gene for Noonan syndrome. METHODS A...

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Detalles Bibliográficos
Autores principales: Aly, Safwat A., Boyer, Kenneth M., Muller, Brie‐Ann A., Marini, Davide, Jones, Carolyn H., Nguyen, Hoang H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336743/
https://www.ncbi.nlm.nih.gov/pubmed/32396283
http://dx.doi.org/10.1002/mgg3.1253

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336743/
https://www.ncbi.nlm.nih.gov/pubmed/32396283
http://dx.doi.org/10.1002/mgg3.1253

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