A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature

X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemic rickets and it is caused by loss-of-function mutations in the PHEX gene. Recently, a wide variety of PHEX gene defects in XLH have been revealed; these include missense mutations, nonsense mutations, splice site mut...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Cheon, Chong Kun, Lee, Hoon Sang, Kim, Su Yung, Kwak, Min Jung, Kim, Gu-Hwan, Yoo, Han-Wook
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Society of Pediatric Endocrinology 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4049552/
https://ncbi.nlm.nih.gov/pubmed/24926462
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.2014.19.1.36
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados