Open AccessX-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background
Author(s) -
Monika Obara-Moszyńska,
Zofia Kolesińska,
Dorota Jurkiewicz,
K Chrzanowska,
Marek Niedziela
Publication year - 2021
Publication title -
endokrynologia polska
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.413
H-Index - 27
eISSN - 2299-8306
pISSN - 0423-104X
DOI - 10.5603/ep.a2020.0087
Subject(s) - phex , rickets , exon , gene , intron , phenotype , medicine , genetics , gene mutation , mutation , polymorphism (computer science) , endocrinology , biology , microbiology and biotechnology , genotype , vitamin d and neurology
X-linked hypophosphataemic rickets (XLHR) is the most common form of hypophosphataemic rickets (HR), which is caused by mutations in the PHEX gene. The aim of this work was to investigate the clinical phenotype, therapeutic strategies, and molecular background of HR in children hospitalised in our clinic.