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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.
- 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]
- Subjects :
- *LITERATURE reviews
*GENETIC mutation
*DELETION mutation
*KIDNEY calcification
Subjects
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