1Van Allen MI, Filippi G, Siegel-Barteh J, et ah Clinical variability within Brachmann-de Lange syndrome: a proposed classification system. Am J Med Genet, 1993, 47:947-958.
2Barisic I ,Tokic V, Loane M, et al. Descriptive epidemiology of Cornelia de Lange syndrome in Europe. Am J Med Genet A, 2008, 146A :51-59.
3Krantz ID, McCallum J, DeScipio C, et al. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Gerzet, 2004, 36 : 631-635.
4Tonkin ET, Wang TJ, Lisgo S,et al. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet ,2004,36 : 636-641.
5Oliver C, Bedeschi MF, Blagowidow N, et al. Cornelia de Lange syndrome: extending the physical and psychological phenotype. Am J Med Genet A, 2010, 152A:1127-1135.
6Sielicka D, Mrugacz M, Bakunowicz-Lazarczyk A, et al. Ophthalmologic findings in child in the Cornelia de Lange syndrome. Klin Oczna, 2009, 11 1:348-349.
3Liu J, Baynam G. Cornelia de Lange syndrome. Adv Exp Med Biol, 2010, 685: 111-123.
4Kline AD, Krantz ID, Sommer A, et al. Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet, 2007, 143A: 1287- 1296.
5Wyguanski-Jaffe T, Shirt J, Perrnzza E, et al. Ophthalmologic findings in the Cornelia de Lange syndrome. J AAPOS, 2005, 9 : 407-415.
6Schoumans J, Wincent J, Barbaro M, et al. Comprehensive mutational analysis of a cohort of Swedish Corneha de Lange syndrome patients. Eur J Hum Genet, 2007, 15 : 143-149.
7Kline AD, Grados M, Sponseller P, et al. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet Part C Semin Med Genet, 2007, 145C: 248-260.
8Schrier SA, Sherer I, Deardorff MA, et al. Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature. Am J Med Genet Part A, 2011, 155: 3007-3024.
9Kalal GI, Raina VP, Nayak VS, et al. Cornelia de Lange syndrome: a case study. Genet Test Mol Biomarkers, 2009, 13: 15-18.
10Hayashi S, Ono M, Makita Y, et al. Fortuitous detection of a submicroscopic deletion at 1 q25 in a girl with Cornelia-de Lange syndrome carrying t ( 5 ; 13 ) ( p13. 1 ; q12. 1 ) by array-based comparative genomic hybridization. Am J Med Genet Part A, 2007, 143A: 1191-1197.
