| 1 | SHH, TPT
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| A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.
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| Klopocki E, Ott CE, Benatar N, Ullmann R, Mundlos S, Lehmann K.
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| J Med Genet 45(6):370-375. Epub 2008 Jan 4. 2008
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| 2 | SHH, TPT
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| A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb.
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| Furniss D, Lettice LA, Taylor IB, Critchley PS, Giele H, Hill RE, Wilkie AO.
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| Hum Mol Genet 17(16):2417-23. Epub 2008 May 7. 2008
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| 3 | SHH, TPT
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| Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.
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| Sun M, Ma F, Zeng X, Liu Q, Zhao XL, Wu FX, Wu GP, Zhang ZF, Gu B, Zhao YF, Tian SH, Lin B, Kong XY, Zhang XL, Yang W, Lo WH, Zhang X.
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| J Med Genet 45(9):589-95. Epub 2008 Apr 16.
2008
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| 4 | PPD2, TPT
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| A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice.
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| Clark RM, Marker PC, Kingsley DM.
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| Genomics 67(1):19-27. 2000
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| 5 | TPT
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| Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family.
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| Kantaputra PN, Chalidapong P.
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| Am J Med Genet 93(2):126-31. Review. 2000
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| 6 | PPD2, TPT
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| Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36.
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| Zguricas J, Heus H, Morales-Peralta E, Breedveld G, Kuyt B, Mumcu EF, Bakker W, Akarsu N, Kay SP, Hovius SE, Heredero-Baute L, Oostra BA, Heutink P.
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| J Med Genet 36 : 32-40. 1999
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| 7 | C7orf4, LMBR1, NOM1, PPD2, TPT
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| A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36.
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| Heus HC, Hing A, van Baren MJ, Joosse M, Breedveld GJ, Wang JC, Burgess A,Donnis-Keller H, Berglund C, Zguricas J, Scherer SW, Rommens JM, Oostra BA,Heutink P.
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| Genomics 57(3):342-51. 1999
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| 8 | TPT
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| Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36.
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| Balci S, Demirtas M, Civelek B, Piskin M, Sensoz O, Akarsu AN.
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| Am J Med Genet 87(5):399-406. 1999
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| 9 | PPD2, TPT
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| An autosomal dominant triphalangeal thumb : polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36.
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| Radhakrishna U, Blouin JL, Solanki JV, Dhoriani GM, Antonarakis SE.
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| Am J Med Genet 66 : 209-215. 1996
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| 10 | PPD2, TPT
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| Linkage of preaxial polydactyly type 2 to 7q36.
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| Hing AV, et al.
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| Am J Med Genet 58 : 128-135. 1995
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| 11 | TPT, PPD2
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| A complex bilateral polysyndactyly disease locus maps to chromosome 7q36.
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| Tsukurov O, et al.
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| Nat Genet 6 : 282-285. 1994
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| 12 | PPD2, TPT
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| Phenotypic analysis of triphalangeal thumb and associated hand malformations.
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| Zguricas J, Snijders PJ, Hovius SE, Heutink P, Oostra BA, Lindhout D.
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| J Med Genet 31 : 462-467. 1994
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