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Variability in a family with an insertion involving 5p.
Marinescu RC, Mamunes P, Kline AD, Schmidt J, Rojas K, Overhauser J. Marinescu RC, et al. Among authors: kline ad. Am J Med Genet. 1999 Sep 17;86(3):258-63. Am J Med Genet. 1999. PMID: 10482876
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. Deardorff MA, et al. Among authors: kline ad. Am J Hum Genet. 2007 Mar;80(3):485-94. doi: 10.1086/511888. Epub 2007 Jan 17. Am J Hum Genet. 2007. PMID: 17273969 Free PMC article.
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