Article
A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets.
Endocrine, metabolic & immune disorders drug targets - 1 Jan 2023
Terracciano Alessandra, De Bernardi Margherita Lucia, Novizio Roberto, De Brasi Davide, Iolascon Achille, Monica Matteo Della, Scavuzzo Francesco, Serino Domenico, Novelli Antonio, Piscopo Carmelo
Abstract excerpt
BACKGROUND: X-linked hypophosphatemia is the most prevalent form of heritable rickets, characterized by an X-linked dominant inheritance pattern. The genetic basis of X-linked hypophosphatemia is a loss-of-function mutation in the PHEX gene (Phosphate regulating gene with Homology to Endopeptidases on the X chromosome), which leads to an enhanced production of phosphaturic hormone FGF23. X-linked hypophosphatemia...
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