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

• Main Authors: Ha Young Jo (Author), Jung Hyun Shin (Author), Hye Young Kim (Author), Young Mi Kim (Author), Heirim Lee (Author), Mi Hye Bae (Author), Kyung Hee Park (Author), Ja-Hyun Jang (Author), Min Jung Kwak (Author)
• Formato: Livro
• Publicado em: Korean Society of Pediatric Endocrinology, 2020-03-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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...