Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets

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Guven A., Al-Rijjal R. A., BinEssa H. A., Dogan D., Kor Y., Zou M., ...More

CLINICAL ENDOCRINOLOGY, vol.87, no.1, pp.103-112, 2017 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: 87 Issue: 1
• Publication Date: 2017
• Doi Number: 10.1111/cen.13347
• Journal Name: CLINICAL ENDOCRINOLOGY
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.103-112
• Çanakkale Onsekiz Mart University Affiliated: No

Abstract

ContextHypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3.