The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults

Loss of function mutations in the PHEX gene could determine X-linked dominant hypophosphatemia. This is the most common form of genetic rickets. It is characterized by renal phosphate wasting determining an increase in fibroblast growth factor 23 (FGF-23), growth retard, bone deformities and musculo...

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Detalles Bibliográficos
Autores principales: Zagari, Maria Carmela, Chiarello, Paola, Iuliano, Stefano, D’Antona, Lucia, Rocca, Valentina, Colao, Emma, Perrotti, Nicola, Greco, Francesca, Iuliano, Rodolfo, Aversa, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859156/
https://www.ncbi.nlm.nih.gov/pubmed/36672821
http://dx.doi.org/10.3390/genes14010080

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859156/
https://www.ncbi.nlm.nih.gov/pubmed/36672821
http://dx.doi.org/10.3390/genes14010080

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