Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

Cornelia de Lange syndrome (CdLS) is a rare multisystemic congenital anomaly disorder that is characterised by intellectual disability and growth retardation, congenital heart defects, intestinal anomalies, facial dysmorphism (including synophyris and high arched eyebrows) and limb reduction defects...

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Hlavní autoři: Russo, Silvia, Masciadri, Maura, Gervasini, Cristina, Azzollini, Jacopo, Cereda, Anna, Zampino, Giuseppe, Haas, Oskar, Scarano, Gioacchino, Di Rocco, Maja, Finelli, Palma, Tenconi, Romano, Selicorni, Angelo, Larizza, Lidia
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2012
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3376273/
https://ncbi.nlm.nih.gov/pubmed/22353942
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.7
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