The phenotype of recurrent 10q22q23 deletions and duplications

The genomic architecture of the 10q22q23 region is characterised by two low-copy repeats (LCRs3 and 4), and deletions in this region appear to be rare. We report the clinical and molecular characterisation of eight novel deletions and six duplications within the 10q22.3q23.3 region. Five deletions a...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: van Bon, Bregje W M, Balciuniene, Jorune, Fruhman, Gary, Nagamani, Sandesh Chakravarthy Sreenath, Broome, Diane L, Cameron, Elizabeth, Martinet, Danielle, Roulet, Eliane, Jacquemont, Sebastien, Beckmann, Jacques S, Irons, Mira, Potocki, Lorraine, Lee, Brendan, Cheung, Sau Wai, Patel, Ankita, Bellini, Melissa, Selicorni, Angelo, Ciccone, Roberto, Silengo, Margherita, Vetro, Annalisa, Knoers, Nine V, de Leeuw, Nicole, Pfundt, Rolph, Wolf, Barry, Jira, Petr, Aradhya, Swaroop, Stankiewicz, Pawel, Brunner, Han G, Zuffardi, Orsetta, Selleck, Scott B, Lupski, James R, de Vries, Bert B A
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2011
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3060324/
https://ncbi.nlm.nih.gov/pubmed/21248748
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.211
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker