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

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Abstract

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

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Author and article information

Journal

Journal ID (iso-abbrev): Clin. Endocrinol. (Oxf)

Title: Clinical endocrinology

Publisher: Wiley

ISSN (Electronic): 1365-2265

ISSN (Print): 0300-0664

Publication date (Electronic): Jul 2017

Volume: 87

Issue: 1

Affiliations

[1 ] Department of Pediatric, Amasya University Medical Faculty, Amasya, Turkey.

[2 ] Pediatric Endocrinology Clinic, Goztepe Educational and Research Hospital, Istanbul, Turkey.

[3 ] Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.

[4 ] Department of Pediatrics, Division of Pediatric Endocrinology, Uludag University Faculty of Medicine, Bursa, Turkey.

[5 ] Pediatric Endocrinology Division, Adana Numune Training and Research Hospital, Adana, Turkey.

Article

DOI: 10.1111/cen.13347

PubMed ID: 28383812

SO-VID: 3e696048-abee-4368-b63a-5462cb6537fe

History

Keywords: PHEX , FGF23 , CLCN5 ,rickets,hypophosphataemia

Data availability:

Keywords: PHEX , FGF23 , CLCN5 , rickets, hypophosphataemia

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