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

• Główni autorzy: Ha Young Jo (Autor), Jung Hyun Shin (Autor), Hye Young Kim (Autor), Young Mi Kim (Autor), Heirim Lee (Autor), Mi Hye Bae (Autor), Kyung Hee Park (Autor), Ja-Hyun Jang (Autor), Min Jung Kwak (Autor)
• Format: Książka
• Wydane: Korean Society of Pediatric Endocrinology, 2020-03-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: 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...