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Volumn 42, Issue 2, 2000, Pages 171-176

Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: Is it a variant of Coffin-Siris or a new syndrome?

Author keywords

Coffin Siris syndrome; Growth failure; Mental retardation; Microcephaly; Nail hypoplasia

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CONGENITAL MALFORMATION; CORPUS CALLOSUM; FEMALE; GENETICS; GROWTH DISORDER; HUMAN; KARYOTYPING; MENTAL DEFICIENCY; MICROCEPHALY; MULTIPLE MALFORMATION SYNDROME; MULTIPLE PREGNANCY; NAIL DISEASE; SYNDROME; TWINS;

EID: 0034167971     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (5)

References (14)
  • 1
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    • Mental retardation with absent fifth fingernail and terminal phalanx
    • Coffin GS, Siris E. Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child 1970; 119: 4332.
    • (1970) Am J Dis Child , vol.119 , pp. 4332
    • Coffin, G.S.1    Siris, E.2
  • 2
    • 0003436550 scopus 로고
    • Baltimore and London: The Johns Hopkins University Press
    • McKusick VA. Mendelian Inheritance in Man. Baltimore and London: The Johns Hopkins University Press; 1992: 396.
    • (1992) Mendelian Inheritance in Man , pp. 396
    • McKusick, V.A.1
  • 4
    • 0016798512 scopus 로고
    • The fetal hydantoin syndrome
    • Hanson JW, Smith DW. The fetal hydantoin syndrome. J Pediatr 1975; 87: 285-288.
    • (1975) J Pediatr , vol.87 , pp. 285-288
    • Hanson, J.W.1    Smith, D.W.2
  • 7
    • 0025755713 scopus 로고
    • Coffin-Siris syndrome
    • Levy P, Baraitser M. Coffin-Siris syndrome. J Med Genet 1991; 28: 338-341.
    • (1991) J Med Genet , vol.28 , pp. 338-341
    • Levy, P.1    Baraitser, M.2
  • 9
    • 0018341365 scopus 로고
    • The Coffin-Siris syndrome
    • Schinzel A. The Coffin-Siris syndrome. Acta Paediatr Scand 1979; 68: 449-452.
    • (1979) Acta Paediatr Scand , vol.68 , pp. 449-452
    • Schinzel, A.1
  • 11
    • 0018217838 scopus 로고
    • The Coffin-Siris syndrome: Five new cases including two siblings
    • Carey JC, Hall BD. The Coffin-Siris syndrome: five new cases including two siblings. Am J Dis Child 1978; 132: 667-671.
    • (1978) Am J Dis Child , vol.132 , pp. 667-671
    • Carey, J.C.1    Hall, B.D.2
  • 13
    • 0027049737 scopus 로고
    • Choanal atresia in two unrelated patients with the Coffin-Siris syndrome
    • DeJong G, Nelson MM. Choanal atresia in two unrelated patients with the Coffin-Siris syndrome. Clin Genet 1992; 42: 320-322.
    • (1992) Clin Genet , vol.42 , pp. 320-322
    • DeJong, G.1    Nelson, M.M.2
  • 14
    • 0021983597 scopus 로고
    • Coffin-Siris syndrome: Neuropathologic findings
    • DeBassio WA, Kemper TL, Knoefel JE. Coffin-Siris syndrome: neuropathologic findings. Arch Neurol 1985; 42: 350-353.
    • (1985) Arch Neurol , vol.42 , pp. 350-353
    • DeBassio, W.A.1    Kemper, T.L.2    Knoefel, J.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.