Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients
Author:
Funder
Narodowe Centrum Nauki
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-018-0738-y.pdf
Reference27 articles.
1. 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. https://doi.org/10.1002/ajmg.a.31757 .
2. Kawauchi S, Calof AL, Santos R, Lopez-Burks ME, Young CM, Hoang MP, Chua A, Lao T, Lechner MS, Daniel JA, Nussenzweig A, Kitzes L, Yokomori K, Hallgrimsson B, Lander AD. Multiple organ system defects and transcriptional dysregulation in the Nipbl+/− mouse, a model of Cornelia de Lange syndrome. PLoS Genet. 2009. https://doi.org/10.1371/journal.pgen.1000650 .
3. Dorsett D, Krantz ID. On the molecular etiology of Cornelia de Lange syndrome. Ann N Y Acad Sci. 2009. https://doi.org/10.1111/j.1749-6632.2008.03450.x .
4. Boyle MI, Jespersgaard C, Brøndum-Nielsen K, Bisgaard AM, Tümer Z. Cornelia de Lange syndrome. Clin Genet. 2015. https://doi.org/10.1111/cge.12499 .
5. Kuzniacka A, Wierzba J, Ratajska M, Lipska BS, Koczkowska M, Malinowska M, Limon J. Spectrum of NIPBL gene mutations in polish patients with Cornelia de Lange syndrome. J Appl Genet. 2013. https://doi.org/10.1007/s13353-012-0126-9 .
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