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Two novel variants of the PHEX gene in patients with X-linked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families
X-linked hypophosphatemic rickets (XLHR; OMIM 307800) is an X-linked dominant disorder caused by mutations in the phosphate-regulating neutral endopeptidase homolog X-linked (PHEX) gene, which is located at Xp22.11. In the present study, two novel variants of the PHEX gene were identified in two unr...
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| Publicado no: | Int J Mol Med |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
D.A. Spandidos
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5810233/ https://ncbi.nlm.nih.gov/pubmed/29393334 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/ijmm.2018.3402 |
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