Successful treatment with MEK‐inhibitor in a patient with NRAS ‐related cutaneous skeletal hypophosphatemia syndrome

Cutaneous skeletal hypophosphatemia syndrome (CSHS) is caused by somatic mosaic NRAS variants and characterized by melanocytic/sebaceous naevi, eye, and brain malformations, and FGF23‐mediated hypophosphatemic rickets. The MEK inhibitor Trametinib, acting on the RAS/MAPK pathway, is a candidate for...

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Detalles Bibliográficos
Autores principales: Carli, Diana, Cardaropoli, Simona, Tessaris, Daniele, Coppo, Paola, La Selva, Roberta, Cesario, Claudia, Lepri, Francesca Romana, Pullano, Verdiana, Palumbo, Martina, Ramenghi, Ugo, Brusco, Alfredo, Medico, Enzo, De Sanctis, Luisa, Ferrero, Giovanni Battista, Mussa, Alessandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9826313/
https://www.ncbi.nlm.nih.gov/pubmed/35999193
http://dx.doi.org/10.1002/gcc.23092

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