Cornelia de Lange Syndrome
Author:
Publisher
Springer International Publishing
Link
http://link.springer.com/content/pdf/10.1007/978-3-319-18096-0_78
Reference4 articles.
1. Jackson L, Kline AD, Barr M, Koch S. de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet. 1993;47:940–6.
2. Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, FitzPatrick DR, Levin AV, Selicorni A. Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A. 2007;143A:1287–96.
3. Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, et al. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature. 2012;489(7415):313–7.
4. Russell KL, Ming JE, Patel K, Jukofsky L, Magnusson M, Krantz ID. Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences. Am J Med Genet. 2001;104(4):267–76.
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1. Parenchymal Organ Changes in Two Female Patients With Cornelia de Lange Syndrome: Autopsy Case Report;Cureus;2020-08-15
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