A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets

X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate accompanied by bilateral genu valgum and short statur...

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Detalles Bibliográficos
Autores principales: Yang, Misun, Kim, Jinsup, Yang, Aram, Jang, Jahyun, Jeon, Tae Yeon, Cho, Sung Yoon, Jin, Dong-Kyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312911/
http://dx.doi.org/10.6065/apem.2018.23.4.229

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312911/
http://dx.doi.org/10.6065/apem.2018.23.4.229

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