a novel variant of gene in a neonate with congenital hypoparathyroidism

a novel variant of gene in a neonate with congenital hypoparathyroidism

Autosomal-dominant hypocalcemia with hypercalciuria (ADHH) is a genetic disease characterized by hypoparathyroidism with hypercalciuria. Most patients with ADHH have calcium-sensing receptor (CaSR) gene mutations. The CaSR gene controls parathyroid secretions, and mutations in this gene can be detec...

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Bibliographic Details
Main Authors: Jung-Eun Moon, Su-Jeong Lee, Suk-Hyun Park, Jinsup Kim, Dong-Kyu Jin, Cheol Woo Ko
Format: Article
Language:English
Published: Korean Society of Pediatric Endocrinology 2018-06-01
Series:Annals of Pediatric Endocrinology & Metabolism
Subjects:
Hypercalciuric hypocalcemia
Hypoparathyroidism
Calcium-sensing receptors
Mutation
Online Access:http://e-apem.org/upload/pdf/apem-2018-23-2-107.pdf

Internet

http://e-apem.org/upload/pdf/apem-2018-23-2-107.pdf

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