a novel variant of gene in a neonate with congenital hypoparathyroidism

• Asıl Yazarlar: Jung-Eun Moon (Yazar), Su-Jeong Lee (Yazar), Suk-Hyun Park (Yazar), Jinsup Kim (Yazar), Dong-Kyu Jin (Yazar), Cheol Woo Ko (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Korean Society of Pediatric Endocrinology, 2018-06-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...