Yazar "Al-Rijjal, Roua A." için listeleme
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Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets
Cebeci, Ayse Nurcan; Zou, Minjing; BinEssa, Huda A.; Alzahrani, Ali S.; Al-Rijjal, Roua A.; Al-Enezi, Anwar F.; Shi, Yufei (Endocrine Soc, 2020)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 ...