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 and 2 more
Clinical Case Reports · 2021
doi:10.1002/ccr3.4740 (opens in a new tab)
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Abstract
Abstract 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.
Abstract licence: CC BY-NC
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