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Volumn 82, Issue 5, 2012, Pages 502-504

A novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR GLI3;

EID: 84867660392     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2012.01866.x     Document Type: Letter
Times cited : (29)

References (7)
  • 1
    • 0030680207 scopus 로고    scopus 로고
    • Strike three for GLI3.
    • Biesecker LG. Strike three for GLI3. Nat Genet 1997: 17: 259-260.
    • (1997) Nat Genet , vol.17 , pp. 259-260
    • Biesecker, L.G.1
  • 2
    • 79251474031 scopus 로고    scopus 로고
    • Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
    • Johnston JJ, Sapp JC, Turner JC et al. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat 2010: 31: 1142-1154.
    • (2010) Hum Mutat , vol.31 , pp. 1142-1154
    • Johnston, J.J.1    Sapp, J.C.2    Turner, J.C.3
  • 4
    • 0033362154 scopus 로고    scopus 로고
    • The phenotypic spectrum of GLI3 morphopathies include autosomal dominant preaxial polydactyl type IV and postaxial polydactyly type A/B; no phenotype prediction from the position of GLI3 mutations.
    • Radhakrishna U, Bornholdt D, Scott HS et al. The phenotypic spectrum of GLI3 morphopathies include autosomal dominant preaxial polydactyl type IV and postaxial polydactyly type A/B; no phenotype prediction from the position of GLI3 mutations. Am J Hum Genet 1999: 65: 645-655.
    • (1999) Am J Hum Genet , vol.65 , pp. 645-655
    • Radhakrishna, U.1    Bornholdt, D.2    Scott, H.S.3
  • 5
    • 0032833002 scopus 로고    scopus 로고
    • Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.
    • Kalff-suske M, Wild A, Topp J et al. Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Hum Mol Genet 1999: 8: 1769-1777.
    • (1999) Hum Mol Genet , vol.8 , pp. 1769-1777
    • Kalff-suske, M.1    Wild, A.2    Topp, J.3
  • 6
    • 20144387269 scopus 로고    scopus 로고
    • Molecular and clinical analysis of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI 3 mutations.
    • Johnston JJ, Olivos-Glander I, Killoran C et al. Molecular and clinical analysis of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI 3 mutations. Am J Hum Genet 2005: 76: 609-622.
    • (2005) Am J Hum Genet , vol.76 , pp. 609-622
    • Johnston, J.J.1    Olivos-Glander, I.2    Killoran, C.3
  • 7
    • 17644407688 scopus 로고    scopus 로고
    • Molecular analysis on non-syndromic preaxial polydactyly: preaxial polydactyly type IV and preaxial polydactyly type I.
    • Fujioka H, Ariga T, Horiuchi K et al. Molecular analysis on non-syndromic preaxial polydactyly: preaxial polydactyly type IV and preaxial polydactyly type I. Clinic Genet 2005: 17: 429-433.
    • (2005) Clinic Genet , vol.17 , pp. 429-433
    • Fujioka, H.1    Ariga, T.2    Horiuchi, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.