RASopathy in Patients With Isolated Sagittal Synostosis

RASopathy is caused by dysfunction in the MAPK pathway, and include syndromes like Noonan syndrome (NS), NS with multiple lentigines (formerly known as Leopard syndrome), cardiofaciocutaneous (CFC), Legius syndrome, capillary malformation–arteriovenous malformation, neurofibromatosis type 1, and Cos...

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Detalles Bibliográficos
Autores principales: Davis, Amani Ali, Zuccoli, Giulio, Haredy, Mostafa M., Losee, Joseph, Pollack, Ian F., Madan-Khetarpal, Suneeta, Goldstein, Jesse A., Nischal, Ken K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6540476/
https://www.ncbi.nlm.nih.gov/pubmed/31192281
http://dx.doi.org/10.1177/2333794X19846774