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Volumn 19, Issue 1, 1998, Pages 67-69

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TRANSCRIPTION FACTOR;

EID: 17344363774     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0198-67     Document Type: Article
Times cited : (319)

References (14)
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    • Leri, A.1    Weill, J.2
  • 2
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    • Sex-influenced expression of Madelung's deformity in a family with dyschondrosteosis
    • Lichtenstein, J.R., Sundaram, M. & Burdge, R. Sex-influenced expression of Madelung's deformity in a family with dyschondrosteosis. J. Med. Genet. 17, 41-43 (1980).
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    • Die spontane subluxation der Hand nach Vorne
    • Madelung, V. Die spontane subluxation der Hand nach Vorne. Arch. Klin. Chir. 23, 395-412 (1878).
    • (1878) Arch. Klin. Chir. , vol.23 , pp. 395-412
    • Madelung, V.1
  • 4
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    • Observations in a case of an X/Y translocation, t(X;Y)(p22;q11) in a mother and son. Cytogenet
    • Pfeiffer, R.A. Observations in a case of an X/Y translocation, t(X;Y)(p22;q11) in a mother and son. Cytogenet. Cell. Genet. 26, 150-157 (1980).
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    • Pfeiffer, R.A.1
  • 5
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    • Dyschondrosteosis is controlled by X and Y linked loci. Cytogenet
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  • 6
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    • Are t(X;Y)(p22;q11) translocations in females frequently associated with Madelung deformity?
    • Guichet, A. et al. Are t(X;Y)(p22;q11) translocations in females frequently associated with Madelung deformity? Clin. Dysmorph. 6, 341-345 (1997)
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    • Guichet, A.1
  • 7
    • 0030940217 scopus 로고    scopus 로고
    • Pseudoautosomal deletions encompassing novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
    • Rao, E. et al. Pseudoautosomal deletions encompassing novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nature Genet. 16, 54-62 (1997).
    • (1997) Nature Genet. , vol.16 , pp. 54-62
    • Rao, E.1
  • 8
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    • PHOG a candidate gene for involvement in the short stature of Turner syndrome
    • Ellison, J.W. et al. PHOG a candidate gene for involvement in the short stature of Turner syndrome. Hum. Mol. Genet. 6, 1341-1347 (1997).
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  • 9
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    • Mesomelic dwarfism as the homozygous expression of dyschondrosteosis
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    • (1975) Am. J. Dis. Child . , vol.129 , pp. 375-377
    • Esperitu, C.1    Chen, H.2    Wooley, P.3
  • 10
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    • Dysplasie mésomélique de Reinhart-Pfeiffer ou dyschondrostéose? La distinction est-elle fondée?
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    • Toutain, A.1
  • 11
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.