A Novel PHEX Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets

Phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) is a common cause of X-linked hypophosphatemic (XLH) rickets. Diverse PHEX gene mutations have been reported; however, gene mutations in sporadic rickets are less common than in XLH rickets. Herein, we describe a...

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Detalles Bibliográficos
Autores principales: Kang, Yea Eun, Hong, Jun Hwa, Kim, Jimin, Joung, Kyong Hye, Kim, Hyun Jin, Ku, Bon Jeong, Kim, Koon Soon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Endocrine Society 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4091495/
https://www.ncbi.nlm.nih.gov/pubmed/25031893
http://dx.doi.org/10.3803/EnM.2014.29.2.195

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4091495/
https://www.ncbi.nlm.nih.gov/pubmed/25031893
http://dx.doi.org/10.3803/EnM.2014.29.2.195

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