A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets

X-linked hypophosphatemic rickets is an X-linked dominantly inherited disorder characterized by defects in renal phosphate transport leading to phosphate wasting and hypophosphatemia. In this report, we describe a case of X-linked hypophosphatemic rickets in a patient with a rare pathogenic PHEX var...

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Detalles Bibliográficos
Autores principales: Jeong, In Hwa, Yoo, Jae-Ho, Kim, Namhee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8255857/
https://www.ncbi.nlm.nih.gov/pubmed/34218635
http://dx.doi.org/10.6065/apem.2040186.093

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8255857/
https://www.ncbi.nlm.nih.gov/pubmed/34218635
http://dx.doi.org/10.6065/apem.2040186.093

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