1 | HNPCC1, MSH2, MTS
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| A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome.
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| Perera S, Ramyar L, Mitri A, Pollett A, Gallinger S, Speevak MD, Aronson M, Bapat B.
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| J Hum Genet 55(1):37-41. Epub 2009 Nov 13.PMID: 19911012 2010
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2 | BHDS, CYLD, MFT, MFT2, MHAM, MTS, MTS2, NBCCS2
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| Genetics of skin appendage neoplasms and related syndromes.
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| Lee DA, Grossman ME, Schneiderman P, Celebi JT.
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| J Med Genet 42(11):811-9. 2005
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3 | ADS, JS, MTS, TIMM8A
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| Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene.
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| Tranebjaerg L, Jensen PK, Van Ghelue M, Vnencak-Jones CL, Sund S, Elgjo K, Jakobsen J, Lindal S, Warburg M, Fuglsang-Frederiksen A, Skullerud K.
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| Ophthalmic Genet 22(4):207-23. 2001
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4 | MSH6, HNPCC1, MSH2, MTS
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| Refined chromosomal localization of the mismatch repair and hereditary nonpolyposis colorectal cancer genes hMSH2 and hMSH6.
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| Schmutte C, et al.
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| Cancer Res 58 : 5023-5026. 1998
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5 | MTS
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| Muir-Torre syndrome: clinical features and molecular genetic analysis.
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| Esche C, Kruse R, Lamberti C, Friedl W, Propping P, Lehmann P, Ruzicka T.
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| Br J Dermatol 136(6):913-7. 1997
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6 | MSH2, MTS
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| Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene ?
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| Kruse R, et al.
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| Hum Genet 98 : 747-750. 1996
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7 | MTS, TSG9A
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| Genomic structure, expression and mutational analysis of the P15 (MTS2) gene.
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| Stone S, et al.
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| Oncogene 11 : 987-991. 1995
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8 | MTS, MSH2
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| Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations.
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| Kolodner RD, et al.
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| Genomics 24 : 516-526. 1994
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