JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.34, no.5, pp.639-648, 2021 (Journal Indexed in SCI)
Article / Article
Title of Journal :
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
DMP1, ENPP1, hypophosphatemic rickets, PHEX, SLC34A1, SLC34A3, targeted next-generation sequencing gene panel, PEX GENE, MUTATIONAL ANALYSIS, DMP1, SLC34A3, PROTEIN, INFANCY, PHEX
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.