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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.

Authors :
Yakubov, Renata
Ayman, Asaly
Klein Kremer, Adi
Bael, An
van den Akker, Machiel
Source :
Clinical Case Reports. Sep2021, Vol. 9 Issue 9, p1-6. 6p.
Publication Year :
2021

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 FROM AUTHOR]

Details

Language :
English
ISSN :
20500904
Volume :
9
Issue :
9
Database :
Academic Search Index
Journal :
Clinical Case Reports
Publication Type :
Academic Journal
Accession number :
152653620
Full Text :
https://doi.org/10.1002/ccr3.4740