Autosomal Recessive Malignant Infantile Osteopetrosis Associated with a TCIRG1 Mutation: A Case Report of a Neonate Presenting with Hypocalcemia in South Korea

• Main Authors: Yun Kyo Oh (Author), Koung Eun Choi (Author), Youn-Jeong Shin (Author), Eun Ryoung Kim (Author), Ji Yeon Kim (Author), Min Sun Kim (Author), Sung Yoon Cho (Author), Dong Kyu Jin (Author)
• Format: Book
• Published: Korean Society of Neonatology, 2021-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Osteopetrosis refers to a group of genetic skeletal disorders characterized by osteosclerosis and fragile bones. Osteopetrosis can be classified into autosomal dominant, autosomal recessive, or X-linked forms, which might differ in clinical characteristics and disease severity. Autosomal recessive o...