A novel mutation within 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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Society of Pediatric Endocrinology
2014-03-01
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| Series: | Annals of Pediatric Endocrinology & Metabolism |
| Subjects: | |
| Online Access: | http://e-apem.org/upload/pdf/apem-19-36.pdf |