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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2012
Teme:
Article
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items