Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

BACKGROUND: Cornelia de Lange syndrome (CdLS) is a rare autosomal-dominant disorder characterised by facial dysmorphism, growth and psychomotor developmental delay and skeletal defects. To date, causative mutations in the NIPBL (cohesin regulator) and SMC1A (cohesin structural subunit) genes account...

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書誌詳細
主要な著者: Gervasini, Cristina, Picinelli, Chiara, Azzollini, Jacopo, Rusconi, Daniela, Masciadri, Maura, Cereda, Anna, Marzocchi, Cinzia, Zampino, Giuseppe, Selicorni, Angelo, Tenconi, Romano, Russo, Silvia, Larizza, Lidia, Finelli, Palma
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2013
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3626829/
https://ncbi.nlm.nih.gov/pubmed/23551878
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-41
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