Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3

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 patient...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5837132/
https://www.ncbi.nlm.nih.gov/pubmed/29505567
http://dx.doi.org/10.1371/journal.pone.0193388

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