a novel variant of gene in a neonate with congenital hypoparathyroidism

• Main Authors: Jung-Eun Moon (Author), Su-Jeong Lee (Author), Suk-Hyun Park (Author), Jinsup Kim (Author), Dong-Kyu Jin (Author), Cheol Woo Ko (Author)
• Format: Book
• Published: Korean Society of Pediatric Endocrinology, 2018-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...