A genetic study of a Brazilian cohort of patients with X-linked hypophosphatemia reveals no correlation between genotype and phenotype

• Autors principals: Mauro Borghi (Autor), Leopoldo Muniz da Silva (Autor), Luciana Bispo (Autor), Carlos A. Longui (Autor)
• Format: Llibre
• Publicat: Frontiers Media S.A., 2023-09-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

AimX-linked hypophosphatemia (XLH) is the most common inherited form of rickets, and it is caused by pathogenic inactivating variants of the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene. The main purpose of this study is to identify the presence of a genotype-phenotype correlation...