| 1 | CLCN7, OPTB4
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| Whole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani family.
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| Khan MA, Ullah A, Naeem M.
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| Mol Biol Rep 45(4):565-570. doi: 10.1007/s11033-018-4194-8. Epub 2018 Jun 20.
2018
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| 2 | CLCN7, OPTA2, OPTB4
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| Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.
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| Piret SE, Gorvin CM, Trinh A, Taylor J, Lise S, Taylor JC, Ebeling PR, Thakker RV.
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| Am J Med Genet A 170(11):2988-2992. doi: 10.1002/ajmg.a.37755. Epub 2016 Aug 19.
2016
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| 3 | CLCN7, OPTA2, OPTB1, OPTB4, TCIRG1
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| CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.
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| Barvencik F, Kurth I, Koehne T, Stauber T, Zustin J, Tsiakas K, Ludwig CF, Beil FT, Pestka JM, Hahn M, Santer R, Supanchart C, Kornak U, Del Fattore A, Jentsch TJ, Teti A, Schulz A, Schinke T, Amling M.
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| J Bone Miner Res 29(4):982-91. doi: 10.1002/jbmr.2100.
2014
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| 4 | CLCN7, OPTA2, OPTB4
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| The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families.
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| Wang C, Zhang H, He JW, Gu JM, Hu WW, Hu YQ, Li M, Liu YJ, Fu WZ, Yue H, Ke YH, Zhang ZL.
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| J Bone Miner Metab 30(3):338-48. doi: 10.1007/s00774-011-0319-z. Epub 2011 Sep 28.
2012
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| 5 | CLCN7, OPTA2, OPTB4
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| Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.
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| Pangrazio A, Pusch M, Caldana E, Frattini A, Lanino E, Tamhankar PM, Phadke S, Lopez AG, Orchard P, Mihci E, Abinun M, Wright M, Vettenranta K, Bariae I, Melis D, Tezcan I, Baumann C, Locatelli F, Zecca M, Horwitz E, Mansour LS, Van Roij M, Vezzoni P, Villa A, Sobacchi C.
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| Hum Mutat 31(1):E1071-80.
2010
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| 6 | CLCN7, OPTB4, OPTB5, OSTM1
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| A single-center experience in 20 patients with infantile malignant osteopetrosis.
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| Mazzolari E, Forino C, Razza A, Porta F, Villa A, Notarangelo LD.
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| Am J Hematol 84(8):473-9.
2009
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| 7 | CLCN7, OPTB4
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| Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II.
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| Waguespack SG, Koller DL, White KE, Fishburn T, Carn G, Buckwalter KA, Johnson M, Kocisko M, Evans WE, Foroud T, Econs MJ.
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| J Bone Miner Res 18(8):1513-8. 2003
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