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A novel de novo mutation within PHEX 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...
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| Autori principali: | , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
The Korean Society of Pediatric Endocrinology
2014
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4049552/ https://ncbi.nlm.nih.gov/pubmed/24926462 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.2014.19.1.36 |
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