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

Guven, Ayla; Al-Rijjal, Roua; BinEssa, Huda; Dogan, Durmus; Kor, Yilmaz; Zou, Minjing; Kaya, Namik; Alenezi, Anwar; Hancili, Suna; Tarim, ÖMER; Baitei, Essa; Kattan, Walaa; Meyer, Brian; Shi, Yufei

doi:10.1111/cen.13347

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

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, Scopus)

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
Keywords: CLCN5, FGF23, hypophosphataemia, PHEX, rickets, MOLECULAR-WEIGHT PROTEINURIA, DENT DISEASE, GENE, PHOSPHATE, DMP1, SLC34A3, NEPHROCALCINOSIS, HYPERCALCIURIA, CHILDREN
Bursa Uludag University Affiliated: Yes

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.