X-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background | Zendy

Monika Obara-Moszyńska | Zendy; Aleksandra Rojek | Zendy; Zofia Kolesińska | Zendy; Dorota Jurkiewicz | Zendy; Krystyńa Chrzańowska | Zendy; Marek Niedziela | Zendy

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X-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background

Author(s) -

Monika Obara-Moszyńska,

Aleksandra Rojek,

Zofia Kolesińska,

Dorota Jurkiewicz,

Krystyńa Chrzańowska,

Marek Niedziela

Publication year - 2020

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.

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