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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Detalhes bibliográficos
Publicado no:Ann Pediatr Endocrinol Metab
Main Authors: Yang, Misun, Kim, Jinsup, Yang, Aram, Jang, Jahyun, Jeon, Tae Yeon, Cho, Sung Yoon, Jin, Dong-Kyu
Formato: Artigo
Idioma:Inglês
Publicado em: Korean Society of Pediatric Endocrinology 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6312911/
https://ncbi.nlm.nih.gov/pubmed/30599486
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.2018.23.4.229
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