Clinical, Radiographic, and Molecular Analysis of Patients with X-Linked Hypophosphatemic Rickets: Looking for Phenotype–Genotype Correlation

Clinical, Radiographic, and Molecular Analysis of Patients with X-Linked Hypophosphatemic Rickets: Looking for Phenotype–Genotype Correlation

Background/Objectives: X-linked hypophosphataemic rickets (XLH) represents the most frequent type of rickets from genetic origin, it is caused by mutations on the <i>PHEX</i> gene. The main clinical manifestations are short stature and bone deformities. Phenotype variation is observed at...

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Main Authors: Marco A. Olivas-Valdez, Armando Blanco-López, Daniela Velázquez-Arestegui, Teresita Vera-Zazueta, Douglas Colmenares-Bonilla, Lilian Reyes-Morales, Miguel A. Blanco-Uriarte, Lucero Monterde-Cruz, Alberto Hidalgo-Bravo
Format: Article
Language:English
Published: MDPI AG 2025-01-01
Series:Diagnostics
Subjects:
X-Linked hypophosphatemic rickets
<i>PHEX</i>
genotype–phenotype correlation
bone
XLH
Online Access:https://www.mdpi.com/2075-4418/15/1/91
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