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

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

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...

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Bibliographic Details
Main Authors: Mauro Borghi, Leopoldo Muniz da Silva, Luciana Bispo, Carlos A. Longui
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-09-01
Series:Frontiers in Pediatrics
Subjects:
genotype
genotype–phenotype correlation
phosphate
variants
X-linked hypophosphatemic rickets
phenotype
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1215952/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2023.1215952/full

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