Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother

The pericentromeric region of chromosome 16p is rich in segmental duplications that predispose to rearrangements through non-allelic homologous recombination. Several recurrent copy number variations have been described recently in chromosome 16p. 16p11.2 rearrangements (29.5–30.1 Mb) are associated...

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Main Authors: Tabet, Anne-Claude, Pilorge, Marion, Delorme, Richard, Amsellem, Frédérique, Pinard, Jean-Marc, Leboyer, Marion, Verloes, Alain, Benzacken, Brigitte, Betancur, Catalina
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2012
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3330222/
https://ncbi.nlm.nih.gov/pubmed/22234155
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.244
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