Unusual presentation of a five‐month‐old boy with NaPi2a homozygous mutation without hyperphosphaturia: Case report and review of the literature

Deletions of the NaPi2a gene and mutations in the SLC34A gene should be considered in patients with atypical presentation, without phosphaturia, with mild hypo to normal phosphatemia, and nephrocalcinosis.

Detalles Bibliográficos
Autores principales: Yakubov, Renata, Ayman, Asaly, Klein Kremer, Adi, Bael, An, van den Akker, Machiel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8435227/
https://www.ncbi.nlm.nih.gov/pubmed/34532044
http://dx.doi.org/10.1002/ccr3.4740

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8435227/
https://www.ncbi.nlm.nih.gov/pubmed/34532044
http://dx.doi.org/10.1002/ccr3.4740

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