CrossRef Text and Data Mining
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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

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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   Crossref logo
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Malignant infantile osteopetrosis initially presenting with neonatal hypocalcemia: case report
Annals of Hematology. 2003;82(1):64-67   Crossref logo
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Infantile autosomal-recessive malignant osteopetrosis
Journal of Perinatology. 2007;27(7):455-456   Crossref logo
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Identification of Novel Mutation in Autosomal Recessive Infantile Malignant Osteopetrosis
The Indian Journal of Pediatrics. 2013;81(9):969-970   Crossref logo
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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   Crossref logo
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The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis
Clinical Genetics. 2016;92(1):80-85   Crossref logo
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Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications
Osteoporosis International. 2012;23(11):2713-2718   Crossref logo
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Infantile Malignant, Autosomal Recessive Osteopetrosis: The Rich and The Poor
Calcified Tissue International. 2008;84(1):1-12   Crossref logo
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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   Crossref logo
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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   Crossref logo
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