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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Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2012
Gaiak:
Article
Sarrera elektronikoa: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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