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

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

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

Renata Yakubov Asaly Ayman Adi Klein Kremer An Bael Machiel van den Akker

Clin Case Rep

Department of Pediatrics ZNA Queen Paola Children's Hospital Antwerp Belgium.

Published: September 2021

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

Download full-text PDF	Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8435227	PMC
http://dx.doi.org/10.1002/ccr3.4740	DOI Listing

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