Analysis of 2 novel mutations of PHEX gene inducing X-linked dominant hypophosphatemia rickets in 2 families: Two case reports

RATIONALE: X-linked dominant hypophosphatemia rickets (XLH, OMIM 307800) is the most common hereditary hypophosphatemic rickets and characterized by growth retardation, skeletal malformations, dental dysplasia, spontaneous fractures and osteomalacia. PHEX gene was identified for XLH and novel mutati...

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Detalles Bibliográficos
Autores principales: Gao, Yue, Wang, Zhi-Min, Li, Xia-Lian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081144/
https://www.ncbi.nlm.nih.gov/pubmed/30075510
http://dx.doi.org/10.1097/MD.0000000000011453

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081144/
https://www.ncbi.nlm.nih.gov/pubmed/30075510
http://dx.doi.org/10.1097/MD.0000000000011453

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