A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets

X-linked hypophosphatemic rickets (XLH) is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. Inactivating mutations in the gene encoding phosphate-regulating gene with homologies to endopeptidases on the X chromos...

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Detalles Bibliográficos
Autores principales: Kawahara, Tetsuya, Watanabe, Hiromi, Omae, Risa, Yamamoto, Toshiyuki, Inazu, Tetsuya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377384/
https://www.ncbi.nlm.nih.gov/pubmed/25861491
http://dx.doi.org/10.1155/2015/301264

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377384/
https://www.ncbi.nlm.nih.gov/pubmed/25861491
http://dx.doi.org/10.1155/2015/301264

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