A Novel 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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Bibliographic Details
Main Authors: Yea Eun Kang, Jun Hwa Hong, Jimin Kim, Kyong Hye Joung, Hyun Jin Kim, Bon Jeong Ku, Koon Soon Kim
Format: Article
Language:English
Published: Academya Publishing Co. 2014-06-01
Series:Endocrinology and Metabolism
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Online Access:http://e-enm.org/Synapse/Data/PDFData/2008ENM/enm-29-195.pdf