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Volumn 86, Issue 4, 2002, Pages 472-473

Treacher Collins syndrome with novel ophthalmic findings and visceral anomalies [1]

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN;

EID: 0036218405     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.86.4.472     Document Type: Letter
Times cited : (6)

References (10)
  • 3
    • 0025865581 scopus 로고
    • Treacher Collins-Franceschetti syndrome with tracheoesophageal fistula, rectovaginal fistula, and anal atresia: Variant or new syndrome?
    • (1991) Am J Med Genet , vol.39 , pp. 119-120
    • Robb, L.J.1
  • 7
    • 0030070052 scopus 로고    scopus 로고
    • Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome
    • (1996) Nat Genet , vol.12 , pp. 130-136
  • 9
    • 0033800213 scopus 로고    scopus 로고
    • High mutation detection rate in TCOFI among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes
    • (2000) Hum Mutat , vol.16 , pp. 315-322
    • Splendore, A.1    Silva, E.O.2    Alonso, L.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.