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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Detalles Bibliográficos
Autores principales: Liao, Hong, Zhu, Hong-Mei, Liu, Hong-Qian, Li, Ling-Ping, Liu, Shan-Ling, Wang, He
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2018
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5810233/
https://www.ncbi.nlm.nih.gov/pubmed/29393334
http://dx.doi.org/10.3892/ijmm.2018.3402

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