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Autosomal Recessive Malignant Infantile Osteopetrosis Associated with a TCIRG1 Mutation: A Case Report of a Neonate Presenting with Hypocalcemia in South Korea |
Yun Kyo Oh, Koung Eun Choi, Youn-Jeong Shin, Eun Ryoung Kim, Ji Yeon Kim, Min Sun Kim, Sung Yoon Cho, Dong Kyu Jin |
Neonatal Med. 2021;28(3):133-138. Published online August 30, 2021 DOI: https://doi.org/10.5385/nm.2021.28.3.133 |
Autosomal Recessive Malignant Infantile Osteopetrosis Associated with a TCIRG1 Mutation: A Case Report of a Neonate Presenting with Hypocalcemia in South Korea Malignant infantile osteopetrosis initially presenting with neonatal hypocalcemia: case report Infantile autosomal-recessive malignant osteopetrosis Identification of Novel Mutation in Autosomal Recessive Infantile Malignant Osteopetrosis Successful total hip arthroplasty for patient with TCIRG1-associated autosomal recessive osteopetrosis Case report of mild
Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7 The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis Infantile Malignant, Autosomal Recessive Osteopetrosis: The Rich and The Poor Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families |