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Volumn 44, Issue 5, 1996, Pages 520-523

Síndrome de Robinow : Presentación de una familia con transmisión autosómica dominante

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; DWARFISM; FACE MALFORMATION; FAMILY; FEMALE; HUMAN; INFANT; MALE; META ANALYSIS; PRESCHOOL CHILD; ROBINOW SYNDROME; SYNDROME DELINEATION; DOMINANT GENE; GENETICS; MULTIPLE MALFORMATION SYNDROME; PEDIGREE; PHENOTYPE; RETROSPECTIVE STUDY; REVIEW; SYNDROME;

EID: 0029894685     PISSN: 03024342     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (3)

References (15)
  • 1
    • 0022443827 scopus 로고
    • Robinow Syndrome without mesomelic "brachymelia": A case Report of five cases
    • Bain M, Winter R, Bum J. "Robinow Syndrome without mesomelic "brachymelia": A case Report of five cases". J Med Genet, 1986;23:350-354.
    • (1986) J Med Genet , vol.23 , pp. 350-354
    • Bain, M.1    Winter, R.2    Bum, J.3
  • 3
    • 0023125868 scopus 로고
    • Robinow syndrome: Report of two cases and review of the literature
    • Butler M, Wadlington W. "Robinow syndrome: Report of two cases and review of the literature". Clin Genet, 1987;31:77-85.
    • (1987) Clin Genet , vol.31 , pp. 77-85
    • Butler, M.1    Wadlington, W.2
  • 5
    • 0025151753 scopus 로고
    • Congenital heart disease and Robinow syndrome. Coincidence or an aditional component of the syndrome?
    • Webber S, Wargowski D, Chitayat d, Sandor G. "Congenital heart disease and Robinow syndrome. Coincidence or an aditional component of the syndrome?" Am J Med Genet, 1990;37:519-521.
    • (1990) Am J Med Genet , vol.37 , pp. 519-521
    • Webber, S.1    Wargowski, D.2    Chitayat, D.3    Sandor, G.4
  • 6
    • 0025325217 scopus 로고
    • Robinow syndrome: Report of two patients with cystic kidney disease
    • Wiens L, Strickland D, Sniffen B, Warady B. "Robinow syndrome: Report of two patients with cystic kidney disease". Clin Genet, 1990:481-484.
    • (1990) Clin Genet , pp. 481-484
    • Wiens, L.1    Strickland, D.2    Sniffen, B.3    Warady, B.4
  • 7
    • 0025159356 scopus 로고
    • Autosomal recessive Robinow syndrome
    • Teebi A "Autosomal recessive Robinow syndrome". Am J Med Genet, 1990;35:64-68.
    • (1990) Am J Med Genet , vol.35 , pp. 64-68
    • Teebi, A.1
  • 8
    • 0026823332 scopus 로고
    • Dwarfism, rhizomelic limbs shortness and abnormal face: New short stature syndrone sharing some manifestations with Robinow syndrome
    • Turnpenny P, Thwaits R. "Dwarfism, rhizomelic limbs shortness and abnormal face: New short stature syndrone sharing some manifestations with Robinow syndrome". Am J Med Genet, 1992;42:724-727.
    • (1992) Am J Med Genet , vol.42 , pp. 724-727
    • Turnpenny, P.1    Thwaits, R.2
  • 12
    • 0025165804 scopus 로고
    • Concurrence of Robinow syndrome ans Cligler-Najjar syndrome in two offspring of first cousins
    • Nazer H, Thirumazhisai G, Sakati N, Nyham W. "Concurrence of Robinow syndrome ans Cligler-Najjar syndrome in two offspring of first cousins". Am J Med Genet. 1990;37:516-518.
    • (1990) Am J Med Genet. , vol.37 , pp. 516-518
    • Nazer, H.1    Thirumazhisai, G.2    Sakati, N.3    Nyham, W.4
  • 13
    • 0015653167 scopus 로고
    • Mesomelic dwarfism with hemivertebrae and small genitalia (The Robinow syndrome)
    • Wadlington WB, Tucker VL, Schimke N. "Mesomelic dwarfism with hemivertebrae and small genitalia (The Robinow syndrome)". Am J Dis Child, 1973;126:202-205.
    • (1973) Am J Dis Child , vol.126 , pp. 202-205
    • Wadlington, W.B.1    Tucker, V.L.2    Schimke, N.3
  • 14
    • 0025645785 scopus 로고
    • Genetic imprinting in clinical genetics
    • Clarcke A. "Genetic imprinting in clinical genetics". Development, 1990; Suplement:131-139.
    • (1990) Development , vol.SUPLEMENT , pp. 131-139
    • Clarcke, A.1
  • 15
    • 0016730098 scopus 로고
    • The radiological diagnosis of the fetal face (Robinow syndrome). Report of three cases
    • Giedion A, Battaglia G, Bellini F, Fanconi G. "The radiological diagnosis of the fetal face (Robinow syndrome). Report of three cases". Helv Paediat Acta, 1975;30:409-423.
    • (1975) Helv Paediat Acta , vol.30 , pp. 409-423
    • Giedion, A.1    Battaglia, G.2    Bellini, F.3    Fanconi, G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.