Cornelia de Lange Syndrome
Search For A Disorder
References
Minor A, Shinawi M, Hogue JS, Vineyard M, Hamlin DR, Tan C, Donato K, Wysinger L, Botes S, Das S, Del Gaudio D. Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case. Gene. 2013 Dec 27. [Epub ahead of print].
Mannini L, Cucco F, Quarantotti V, Krantz ID, Musio A. Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome. Hum Mutat. 2013 Aug 29. [Epub ahead of print].
Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet. 2006 May;38(5):528-30.
Jackson L, Kline AD, Barr MA, Koch S. de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet. 1993 Nov 15;47(7):940-6.
Levin AV, Seidman DJ, Nelson LB, Jackson LG. Ophthalmologic findings in the Cornelia de Lange syndrome. J Pediatr Ophthalmol Strabismus. 1990 Mar-Apr;27(2):94-102.