X-linked hypophosphatemic rickets: a new mutation

Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 mutations in the PHEX gene have been found to cause hypophosphatemic rickets. The authors report a clinical case of a 4-year-old girl with unremarkable fam...

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Detalles Bibliográficos
Autores principales: Maio, Patrícia, Mano, Lia, Rocha, Sara, Baptista, Rute Baeta, Francisco, Telma, Sousa, Helena, Freixo, João Parente, Abranches, Margarida
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Nefrologia 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8257286/
https://www.ncbi.nlm.nih.gov/pubmed/32897287
http://dx.doi.org/10.1590/2175-8239-JBN-2020-0027

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8257286/
https://www.ncbi.nlm.nih.gov/pubmed/32897287
http://dx.doi.org/10.1590/2175-8239-JBN-2020-0027

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