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...

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Detalles Bibliográficos
Autores principales: Cheon, Chong Kun, Lee, Hoon Sang, Kim, Su Yung, Kwak, Min Jung, Kim, Gu-Hwan, Yoo, Han-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Endocrinology 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049552/
https://www.ncbi.nlm.nih.gov/pubmed/24926462
http://dx.doi.org/10.6065/apem.2014.19.1.36

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