De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab

Pathogenic variants in the PHEX gene cause rare and severe X-linked dominant hypophosphataemia (XLH), a form of heritable hypophosphatemic rickets (HR) characterized by renal phosphate wasting and elevated fibroblast growth factor 23 (FGF23) levels. Burosumab, the approved human monoclonal anti-FGF2...

Descripción completa

Detalles Bibliográficos
Autores principales: Pecoraro, Carmine, Fioretti, Tiziana, Perruno, Assunta, Klain, Antonella, Cioffi, Daniela, Ambrosio, Adelaide, Passaro, Diego, Annicchiarico Petruzzelli, Luigi, Di Domenico, Carmela, de Girolamo, Domenico, Vallone, Sabrina, Cattaneo, Fabio, Ammendola, Rosario, Esposito, Gabriella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10417872/
https://www.ncbi.nlm.nih.gov/pubmed/37568915
http://dx.doi.org/10.3390/diagnostics13152552

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10417872/
https://www.ncbi.nlm.nih.gov/pubmed/37568915
http://dx.doi.org/10.3390/diagnostics13152552

Ejemplares similares