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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Asıl Yazarlar: Seok Jin Kang (Yazar), Rosie Lee (Yazar), Heung Sik Kim (Yazar)
Materyal Türü: Kitap
Baskı/Yayın Bilgisi: Korean Society of Pediatric Endocrinology, 2019-03-01T00:00:00Z.
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