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Volumn 158 A, Issue 8, 2012, Pages 2031-2035

A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly

Author keywords

Polydactyly; Syndactyly; Triphalangeal thumb; ZRS

Indexed keywords

SONIC HEDGEHOG PROTEIN;

EID: 84864148035     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35473     Document Type: Article
Times cited : (12)

References (13)
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    • Albuisson, J.1    Isidor, B.2    Giraud, M.3    Pichon, O.4    Marsaud, T.5    David, A.6    Le Caignec, C.7    Bezieau, S.8
  • 3
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    • Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly
    • Gurnett CA, Bowcock AM, Dietz FR, Morcuende JA, Murray JC, Dobbs MB. 2007. Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly. Am J Med Genet Part A 143A: 27-32.
    • (2007) Am J Med Genet Part A , vol.143 A , pp. 27-32
    • Gurnett, C.A.1    Bowcock, A.M.2    Dietz, F.R.3    Morcuende, J.A.4    Murray, J.C.5    Dobbs, M.B.6
  • 4
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    • A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome
    • Klopocki E, Ott CE, Benatar N, Ullmann R, Mundlos S, Lehmann K. 2008. A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. J Med Genet 45: 370-375.
    • (2008) J Med Genet , vol.45 , pp. 370-375
    • Klopocki, E.1    Ott, C.E.2    Benatar, N.3    Ullmann, R.4    Mundlos, S.5    Lehmann, K.6
  • 7
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    • Canine polydactyl mutations with heterogeneous origin in the conserved intronic sequence of LMBR1
    • Park K, Kang J, Subedi KP, Ha JH, Park C. 2008. Canine polydactyl mutations with heterogeneous origin in the conserved intronic sequence of LMBR1. Genetics 179: 2163-2172.
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    • Park, K.1    Kang, J.2    Subedi, K.P.3    Ha, J.H.4    Park, C.5
  • 8
    • 14844341770 scopus 로고    scopus 로고
    • Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb
    • Sagai T, Hosoya M, Mizushina Y, Tamura M, Shiroishi T. 2005. Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb. Development 132: 797-803.
    • (2005) Development , vol.132 , pp. 797-803
    • Sagai, T.1    Hosoya, M.2    Mizushina, Y.3    Tamura, M.4    Shiroishi, T.5
  • 10
    • 67650927391 scopus 로고    scopus 로고
    • Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: No phenotypic difference between homozygotes and heterozygotes
    • Semerci CN, Demirkan F, Ozdemir M, Biskin E, Akin B, Bagci H, Akarsu NA. 2009. Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: No phenotypic difference between homozygotes and heterozygotes. Clin Genet 76: 85-90.
    • (2009) Clin Genet , vol.76 , pp. 85-90
    • Semerci, C.N.1    Demirkan, F.2    Ozdemir, M.3    Biskin, E.4    Akin, B.5    Bagci, H.6    Akarsu, N.A.7
  • 12
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    • cis-Regulatory mutations are a genetic cause of human limb malformations
    • VanderMeer JE, Ahituv N. 2011. cis-Regulatory mutations are a genetic cause of human limb malformations. Dev Dyn 240: 920-930.
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  • 13
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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
    • 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.
    • (2009) Hum Mutat , vol.31 , pp. 81-89
    • Wieczorek, D.1    Pawlik, B.2    Li, Y.3    Akarsu, N.A.4    Caliebe, A.5    May, K.J.W.6    Schweiger, B.7    Vargas, F.R.8    Balci, S.9    Gillessen-Kaesbach, G.10    Wollnik, B.11


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.