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

• Published in: Neonatal medicine (Seoul, Korea) Vol. 28; no. 3; pp. 133 - 138
• Main Authors: Oh, Yun Kyo, Choi, Koung Eun, Shin, Youn-Jeong, Kim, Eun Ryoung, Kim, Ji Yeon, Kim, Min Sun, Cho, Sung Yoon, Jin, Dong Kyu
• Format: Journal Article
• Language: Korean
• Published: 2021
• Subjects: Osteopetrosis; Infant, newborn; Bone density; Mutation; Hypocalcemia

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...