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Article

Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets.

Journal of pediatric endocrinology & metabolism : JPEM - 26 May 2021

Turan Ihsan, Erdem Sevcan, Kotan Leman Damla, Ozdemir Dilek Semine, Tastan Mehmet, Gurbuz Fatih, Bişgin Atıl, Karabay Bayazıt Aysun, Topaloglu Ali Kemal, Yuksel Bilgin

Abstract excerpt

OBJECTIVES: Hereditary Hypophosphatemic Rickets (HHR) is a heterogeneous group of disorders characterized by hypophosphatemia. Although the X-linked dominant HHR is the most common form, the genetic etiology of HHR is variable. Recently, developed next-generation sequencing techniques may provide opportunities for making HHR diagnosis in a timely and efficient way. METHODS: We investigated clinical and genetic...

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PMID: 33852231
DOI: 10.1515/jpem-2020-0624

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