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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Bras Nefrol
Prif Awduron: Maio, Patrícia, Mano, Lia, Rocha, Sara, Baptista, Rute Baeta, Francisco, Telma, Sousa, Helena, Freixo, João Parente, Abranches, Margarida
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Sociedade Brasileira de Nefrologia 2020
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC8257286/
https://ncbi.nlm.nih.gov/pubmed/32897287
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/2175-8239-JBN-2020-0027
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