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Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report
Seok Jin Kang, Rosie Lee, Heung Sik Kim
Ann Pediatr Endocrinol Metab. 2019;24(1):64-67.   Published online March 31, 2019
DOI: https://doi.org/10.6065/apem.2019.24.1.64

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Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report
Annals of Pediatric Endocrinology & Metabolism. 2019;24(1):64-67   Crossref logo
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Rare Cause of Infantile Hypercalcemia: A Novel Mutation in the SLC34A1 Gene
Hormone Research in Paediatrics. 2018;91(4):278-284   Crossref logo
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Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report
BMC Pediatrics. 2019;19(1):   Crossref logo
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MON-255 A Novel Variant of SLC34A1 Gene in an Infant with Idiopathic Infantile Hypercalcemia
Journal of the Endocrine Society. 2019;3(Supplement_1):   Crossref logo
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Heterozygous mutation of SLC34A1 in patients with hypophosphatemic kidney stones and osteoporosis: a case report
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The role of NHERF-1 in the regulation of renal proximal tubule sodium-hydrogen exchanger 3 and sodium-dependent phosphate cotransporter 2a
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A Novel Compound Heterozygous Mutation in the WFS1 Gene (C.1997 G>A and C.2113_2114 ins T) Causes wolfram Syndrome: A Case Report
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