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5. Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. Frattini A; Pangrazio A; Susani L; Sobacchi C; Mirolo M; Abinun M; Andolina M; Flanagan A; Horwitz EM; Mihci E; Notarangelo LD; Ramenghi U; Teti A; Van Hove J; Vujic D; Young T; Albertini A; Orchard PJ; Vezzoni P; Villa A J Bone Miner Res; 2003 Oct; 18(10):1740-7. PubMed ID: 14584882 [TBL] [Abstract][Full Text] [Related]
6. A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient. Zeng B; Li R; Hu Y; Hu B; Zhao Q; Liu H; Yuan P; Wang Y Gene; 2016 Jan; 576(1 Pt 1):176-81. PubMed ID: 26477479 [TBL] [Abstract][Full Text] [Related]
7. [Malignant infantile osteopetrosis revealed by choanal atresia: A case report]. Ba ID; Ba A; Thiongane A; Ly/Ba A; Ba M; Fattah M; Faye PM; Cissé DF; Diouf FN Arch Pediatr; 2016 May; 23(5):514-8. PubMed ID: 27017359 [TBL] [Abstract][Full Text] [Related]
8. Malignant infantile osteopetrosis initially presenting with neonatal hypocalcemia: case report. Chen CJ; Lee MY; Hsu ML; Lien SH; Cheng SN Ann Hematol; 2003 Jan; 82(1):64-7. PubMed ID: 12574970 [TBL] [Abstract][Full Text] [Related]
9. Severe malignant osteopetrosis caused by a GL gene mutation. Quarello P; Forni M; Barberis L; Defilippi C; Campagnoli MF; Silvestro L; Frattini A; Chalhoub N; Vacher J; Ramenghi U J Bone Miner Res; 2004 Jul; 19(7):1194-9. PubMed ID: 15177004 [TBL] [Abstract][Full Text] [Related]
10. Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis. Phadke SR; Fischer B; Gupta N; Ranganath P; Kabra M; Kornak U Indian J Med Res; 2010 Apr; 131():508-14. PubMed ID: 20424301 [TBL] [Abstract][Full Text] [Related]
11. Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7. Kantaputra PN; Thawanaphong S; Issarangporn W; Klangsinsirikul P; Ohazama A; Sharpe P; Supanchart C Am J Med Genet A; 2012 Apr; 158A(4):909-16. PubMed ID: 22419446 [TBL] [Abstract][Full Text] [Related]
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15. Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations. Castellano Chiodo D; DiRocco M; Gandolfo C; Morana G; Buzzi D; Rossi A Neuropediatrics; 2007 Jun; 38(3):154-6. PubMed ID: 17985267 [TBL] [Abstract][Full Text] [Related]
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20. [Identification of new mutations in TCIRG1 as a cause of infantile malignant osteopetrosis in two Mexican patients]. Hernández-Martínez C; Guzmán-Martínez MN; Scheffler-Mendoza S; Espinosa-Padilla SE; Sobacchi C; Blancas-Galicia L Rev Alerg Mex; 2018; 65(1):108-116. PubMed ID: 29723947 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]