Associated Papers
Novel Variant of SLC34A3 in a Compound Heterozygous Brazilian Girl with Hereditary Hypophosphatemic Rickets with Hypercalciuria
Valadares LP et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
High yield of monogenic short stature in children from Kurdistan, Iraq: A genetic testing algorithm for consanguineous families.
Amaratunga SA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Experimental_by_OMIM
The Molecular Basis of Calcium and Phosphorus Inherited Metabolic Disorders.
Papadopoulou A et al.
Genes, 2021
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.
Bergwitz C et al.
Pflugers Archiv : European Journal of Physiology, 2019
Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications.
Kremke B et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2009
New aspect of renal phosphate reabsorption: the type IIc sodium-dependent phosphate transporter.
Miyamoto K et al.
American Journal of Nephrology, 2007
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
Lorenz-Depiereux B et al.
American Journal of Human Genetics, 2006
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA: A NOVEL HOMOZYGOUS MUTATION IN SLC34A3 AND LITERATURE REVIEW.
Bhadada SK et al.
Aace Clinical Case Reports, 0
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