Article
Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3.
PloS one - 1 Jan 2018
Acar Sezer, BinEssa Huda A, Demir Korcan, Al-Rijjal Roua A, Zou Minjing, Çatli Gönül, Anık Ahmet, Al-Enezi Anwar F, Özışık Seçil, Al-Faham Manar S A, Abacı Ayhan, Dündar Bumin, Kattan Walaa E, Alsagob Maysoon, Kavukçu Salih, Tamimi Hamdi E, Meyer Brian F, Böber Ece, Shi Yufei
Abstract excerpt
BACKGROUND: Hereditary hypophosphatemia is a group of rare renal phosphate wasting disorders. The diagnosis is based on clinical, radiological, and biochemical features, and may require genetic testing to be confirmed. METHODOLOGY: Clinical features and mutation spectrum were investigated in patients with hereditary hypophosphatemia. Genomic DNA of 23 patients from 15 unrelated families were screened sequentially...
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