Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant
Loss-of-function mutations in the phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) have been causally associated with X-linked hypophosphatemic rickets (XLHR). The early diagnosis of XLHR in infants is challenging when it is based solely on clinical features and...
| Main Authors: | , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
SAGE Publications
2015
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4748509/ |