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Volumn 149, Issue 4, 2009, Pages 816-818

A ZRS duplication causes Syndactyly type IV with Tibial Hypoplasia

Author keywords

[No Author keywords available]

Indexed keywords

REGULATOR PROTEIN; SONIC HEDGEHOG PROTEIN; UNCLASSIFIED DRUG; ZRS PROTEIN;

EID: 63749125708     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32740     Document Type: Letter
Times cited : (26)

References (14)
  • 1
    • 48249123755 scopus 로고    scopus 로고
    • A variant in the sonic hedgehog regulatory sequence (ZRS)is associated with triphalangeal thumb and deregulates expression in the developing limb
    • Furniss D, Lettice LA, Taylor IB, Critchley PS, Giele H, Hill RE, Wilkie AO. 2008. A variant in the sonic hedgehog regulatory sequence (ZRS)is associated with triphalangeal thumb and deregulates expression in the developing limb. Hum Mol Genet 17:2417-2423.
    • (2008) Hum Mol Genet , vol.17 , pp. 2417-2423
    • Furniss, D.1    Lettice, L.A.2    Taylor, I.B.3    Critchley, P.S.4    Giele, H.5    Hill, R.E.6    Wilkie, A.O.7
  • 2
    • 0026078949 scopus 로고
    • Bilateral complete polysyndactyly (type IV Haas)
    • Gillessen-Kaesbach G, Majewski F. 1991. Bilateral complete polysyndactyly (type IV Haas). Am J Med Genet 38:29-31.
    • (1991) Am J Med Genet , vol.38 , pp. 29-31
    • Gillessen-Kaesbach, G.1    Majewski, F.2
  • 3
    • 33846021644 scopus 로고    scopus 로고
    • 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 , vol.143 A , Issue.PART 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
    • 50349122207 scopus 로고
    • Bilateral complete syndactylism of all fingers
    • Haas SL. 1940. Bilateral complete syndactylism of all fingers. Am J Surg 50:363-366.
    • (1940) Am J Surg , vol.50 , pp. 363-366
    • Haas, S.L.1
  • 6
    • 0034679874 scopus 로고    scopus 로고
    • Are triphalangeal thumb-polysyn-dactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly- tripha-langeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family
    • Kantaputra PN, Chalidapong P. 2000. Are triphalangeal thumb-polysyn-dactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly- tripha-langeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family. Am J Med Genet 93:126-131.
    • (2000) Am J Med Genet , vol.93 , pp. 126-131
    • Kantaputra, P.N.1    Chalidapong, P.2
  • 7
    • 45249110444 scopus 로고    scopus 로고
    • 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
  • 10
    • 0025784624 scopus 로고
    • Syndactyly type IV/hexadactyly of feet associated with unilateral absence of the tibia
    • Rambaud-Cousson A, Dudin AA, Zuaiter AS, Thalji A. 1991. Syndactyly type IV/hexadactyly of feet associated with unilateral absence of the tibia. Am J Med Genet 40:144-145.
    • (1991) Am J Med Genet , vol.40 , pp. 144-145
    • Rambaud-Cousson, A.1    Dudin, A.A.2    Zuaiter, A.S.3    Thalji, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.