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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Ann Pediatr Endocrinol Metab
Huvudupphovsmän: Yang, Misun, Kim, Jinsup, Yang, Aram, Jang, Jahyun, Jeon, Tae Yeon, Cho, Sung Yoon, Jin, Dong-Kyu
Materialtyp: Artigo
Språk:Inglês
Publicerad: Korean Society of Pediatric Endocrinology 2018
Ämnen:
Case Report
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk