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

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...

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Detalles Bibliográficos
Autores principales: Jo, Ha Young, Shin, Jung Hyun, Kim, Hye Young, Kim, Young Mi, Lee, Heirim, Bae, Mi Hye, Park, Kyung Hee, Jang, Ja-Hyun, Kwak, Min Jung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7136512/
https://www.ncbi.nlm.nih.gov/pubmed/32252220
http://dx.doi.org/10.6065/apem.2020.25.1.63

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7136512/
https://www.ncbi.nlm.nih.gov/pubmed/32252220
http://dx.doi.org/10.6065/apem.2020.25.1.63

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