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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 |
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Neonatal Med. 2021;28(3):133-138. Published online August 30, 2021 DOI: https://doi.org/10.5385/nm.2021.28.3.133 |
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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 Neonatal Medicine. 2021;28(3):133-138  Malignant infantile osteopetrosis initially presenting with neonatal hypocalcemia: case report Annals of Hematology. 2003;82(1):64-67 Infantile autosomal-recessive malignant osteopetrosis Journal of Perinatology. 2007;27(7):455-456 Identification of Novel Mutation in Autosomal Recessive Infantile Malignant Osteopetrosis The Indian Journal of Pediatrics. 2013;81(9):969-970 Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7 American Journal of Medical Genetics Part A. 2012;158A(4):909-916 The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis Clinical Genetics. 2016;92(1):80-85 Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications Osteoporosis International. 2012;23(11):2713-2718 Infantile Malignant, Autosomal Recessive Osteopetrosis: The Rich and The Poor Calcified Tissue International. 2008;84(1):1-12 Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families Acta Pharmacologica Sinica. 2017;38(11):1456-1465 Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1
Gene Cause Human Autosomal Recessive Osteopetrosis Journal of Bone and Mineral Research. 2015;30(10):1814-1821 |
