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Volumn 7, Issue 2, 1998, Pages 149-151

Costello syndrome with acoustic neuroma and cataract. Is the Costello locus linked to neurofibromatosis type 2 on 22q?

Author keywords

Chromosome 22; Costcllo syndrome; Neurofibromatosis type 2

Indexed keywords

ADULT; CASE REPORT; CHROMOSOME 22; CONGENITAL MALFORMATION; CONGENITAL SKIN DISEASE; FACE; GENETIC LINKAGE; GENETICS; GROWTH DISORDER; HAND MALFORMATION; HUMAN; LETTER; MALE; MULTIPLE MALFORMATION SYNDROME; SYNDROME; TUMOR SUPPRESSOR GENE;

EID: 0032036801     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-199804000-00014     Document Type: Article
Times cited : (27)

References (7)
  • 1
    • 0030584390 scopus 로고    scopus 로고
    • Costello syndrome: Update on the original cases and commentary
    • Costello JM (1996). Costello syndrome: update on the original cases and commentary. Am J Med Genet 62:199-201.
    • (1996) Am J Med Genet , vol.62 , pp. 199-201
    • Costello, J.M.1
  • 2
    • 0029634428 scopus 로고
    • Hungarian case with Costello syndrome and translocation t(l;22)
    • Czeizel EC, Timar L (1995). Hungarian case with Costello syndrome and translocation t(l;22). Am J Med Genet 57:501-503.
    • (1995) Am J Med Genet , vol.57 , pp. 501-503
    • Czeizel, E.C.1    Timar, L.2
  • 4
    • 11944267671 scopus 로고
    • A genetic study of type 2 neurofibromatosis in the north west of England and the United Kingdom. I. Prevalence, mutation rate, fitness and confirmation of maternal transmission effect on severity
    • Evans DGR, Huson SM, Donnai D, Neary W, Blair V, Teare D, Newton V, Strachan T, Ramsden R, Harris R (1992b). A genetic study of type 2 neurofibromatosis in the north west of England and the United Kingdom. I. Prevalence, mutation rate, fitness and confirmation of maternal transmission effect on severity. J Med Genet 29:841-846.
    • (1992) J Med Genet , vol.29 , pp. 841-846
    • Evans, D.G.R.1    Huson, S.M.2    Donnai, D.3    Neary, W.4    Blair, V.5    Teare, D.6    Newton, V.7    Strachan, T.8    Ramsden, R.9    Harris, R.10
  • 5
    • 0027938576 scopus 로고
    • Genetics of the Costello syndrome
    • Lurie IW (1994). Genetics of the Costello syndrome. Am J Med Genet 52:358-359.
    • (1994) Am J Med Genet , vol.52 , pp. 358-359
    • Lurie, I.W.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.