Infantile hypercalcemia with novel compound heterozygous mutation in encoding renal sodium-phosphate cotransporter 2a: a case report

Idiopathic infantile hypercalcemia is characterized by hypercalcemia, dehydration, vomiting, and failure to thrive, and it is due to mutations in 24-hydroxylase (CYP24A1). Recently, mutations in sodium-phosphate cotransporter (SLC34A1) expressed in the kidney were discovered as an additional cause o...

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Bibliographic Details
Main Authors: Seok Jin Kang, Rosie Lee, Heung Sik Kim
Format: Article
Language:English
Published: Korean Society of Pediatric Endocrinology 2019-03-01
Series:Annals of Pediatric Endocrinology & Metabolism
Subjects:
Online Access:http://e-apem.org/upload/pdf/apem-2019-24-1-64.pdf