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

Turan, Ihsan; Erdem, Sevcan; Kotan, LEMAN; Ozdemir Dilek, Semine; Tastan, Mehmet; Gurbuz, Fatih; Bişgin, ATIL; Karabay Bayazıt, Aysun; Topaloglu, Ali; Yuksel, Bilgin

doi:10.1515/jpem-2020-0624

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

Turan I., Erdem S., Kotan L. D., Ozdemir Dilek S., Tastan M., Gurbuz F., ...Daha Fazla

Journal of pediatric endocrinology & metabolism : JPEM, cilt.34, sa.5, ss.639-648, 2021 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 34 Sayı: 5
Basım Tarihi: 2021
Doi Numarası: 10.1515/jpem-2020-0624
Dergi Adı: Journal of pediatric endocrinology & metabolism : JPEM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
Sayfa Sayıları: ss.639-648
Anahtar Kelimeler: DMP1, ENPP1, hypophosphatemic rickets, PHEX, SLC34A1, SLC34A3, targeted next-generation sequencing gene panel, PEX GENE, MUTATIONAL ANALYSIS, DMP1, SLC34A3, PROTEIN, INFANCY, PHEX
Çukurova Üniversitesi Adresli: Evet

Özet

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.