Identification of a novel variant in the gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets

• Hoofdauteurs: Ha Young Jo (Auteur), Jung Hyun Shin (Auteur), Hye Young Kim (Auteur), Young Mi Kim (Auteur), Heirim Lee (Auteur), Mi Hye Bae (Auteur), Kyung Hee Park (Auteur), Ja-Hyun Jang (Auteur), Min Jung Kwak (Auteur)
• Formaat: Boek
• Gepubliceerd in: Korean Society of Pediatric Endocrinology, 2020-03-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Familial hypophosphatemic rickets (FHR) is a disorder characterized by phosphate wasting and hypophosphatemia due to defects in renal phosphate transport regulation. There are 4 known inherited forms of FHR that differ in their molecular causes. Very few studies have been conducted that focused on t...