MON-333 Cutaneous Skeletal Hypophosphatemic Syndrome (Cshs) Caused by Somatic HRAS p.G13R Mutation: Long Follow-Up of Two Brazilian Women

BACKGROUND CSHS refers to the association of epidermal nevus syndrome (ENS), skeletal dysplasia, and hypophosphatemic osteomalacia (OM) mediated by FGF23 resulting from post zygotic mutations in RAS signaling pathway, with known by relationship with human cancers. CLINICAL CASE Patient 1 presented E...

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Detalles Bibliográficos
Autores principales: Maia, Thamiris Freitas, Freire, Bruna Lucheze, Rodrigues, Andresa de Santi, Jorgetti, Vanda, Rocha, André Caroli, Moises, Caio Santiago, de Souza, Bruno Ferraz, Rodrigues, Marcelo Bordalo, Jorge, Alexander Augusto de Lima, Martin, Regina Matsunaga, Cabral, Hially R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Bone and Mineral Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207641/
http://dx.doi.org/10.1210/jendso/bvaa046.1383

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207641/
http://dx.doi.org/10.1210/jendso/bvaa046.1383

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