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Article

Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.

The Journal of clinical endocrinology and metabolism - 1 Jul 2020

Gordon Rebecca J, Li Dong, Doyle Daniel, Zaritsky Joshua, Levine Michael A

Abstract excerpt

CONTEXT: Hypophosphatemia and metabolic bone disease are associated with hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to biallelic mutations of SLC34A3 encoding the NPT2C sodium-phosphate cotransporter and nephrolithiasis/osteoporosis, hypophosphatemic 1 (NPHLOP1) due to monoallelic mutations in SLC34A1 encoding the NPT2A sodium-phosphate cotransporter. OBJECTIVE: To identify a genetic cause...

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Identifiers

PMID: 32311027
DOI: 10.1210/clinem/dgaa217
PMCID: PMC7448300

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