Genotype and Phenotype Analysis in X-Linked Hypophosphatemia

Genotype and Phenotype Analysis in X-Linked Hypophosphatemia

Background: X-linked hypophosphatemia (XLH) is the most frequent form of hypophosphatemic rickets and is caused by mutations in the PHEX gene. We analyzed genotype-phenotype correlations in XLH patients with proven PHEX mutations.Methods:PHEX mutations were detected in 55 out of 81 patients who clin...

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Bibliographic Details
Main Authors: Peong Gang Park, Seon Hee Lim, HyunKyung Lee, Yo Han Ahn, Hae Il Cheong, Hee Gyung Kang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-08-01
Series:Frontiers in Pediatrics
Subjects:
X-linked hypophosphatemic rickets
genotype
truncating mutation
Long-term follow up
genotype-phenotype analysis
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.699767/full

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https://www.frontiersin.org/articles/10.3389/fped.2021.699767/full

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