Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets

Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets

Abstract Background Hypophosphatemic rickets (HR) is a genetic disease of phosphate wasting that is characterized by defective bone mineralization. The most common cause of the disease is mutations in the phosphate regulating gene with homologies to endopeptidases on the X chromosome (PHEX) gene. Th...

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Bibliographic Details
Main Authors: Nahid Tavana, Tzer Hwu Ting, Kaitao Lai, Marina L. Kennerson, Karuppiah Thilakavathy
Format: Article
Language:English
Published: BMC 2022-12-01
Series:Italian Journal of Pediatrics
Subjects:
Hypophosphatemic rickets
Phosphate
PHEX
DMP1
Mutation
Whole exome sequencing
Online Access:https://doi.org/10.1186/s13052-022-01385-5

Internet

https://doi.org/10.1186/s13052-022-01385-5

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