Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets.

doi:10.1210/clinem/dgz260

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets.

The Journal of clinical endocrinology and metabolism - 1 Jun 2020

Cebeci Ayşe Nurcan, Zou Minjing, BinEssa Huda A, Alzahrani Ali S, Al-Rijjal Roua A, Al-Enezi Anwar F, Al-Mohanna Futwan A, Cavalier Etienne, Meyer Brian F, Shi Yufei

Abstract excerpt

CONTEXT: Hypophosphatemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5, SLC9A3R1, SLC34A1, or SLC34A3. OBJECTIVE: A large kindred with 5 HR patients was recruited with dominant inheritance. The study was undertaken to investigate underlying genetic defects in HR patients. DESIGN: Patients and their family members were initially...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biomarkers
Share to Familial Hypophosphatemic Rickets

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Fibroblast Growth Factor-23

Share to Kidney

Share to Phosphates

Share to Prognosis

Share to Protein Serine-Threonine Kinases

Share to Rickets

Source

Open in PubMed

Identifiers

PMID: 31821448
DOI: 10.1210/clinem/dgz260

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.