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A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly
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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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A specific mutation in the distant Sonic Hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb
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Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJW, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, Wollnik B. 2009. A specific mutation in the distant Sonic Hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb. Hum Mutat 31: 81-89.
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