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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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Hlavní autoři: Tabet, Anne-Claude, Pilorge, Marion, Delorme, Richard, Amsellem, Frédérique, Pinard, Jean-Marc, Leboyer, Marion, Verloes, Alain, Benzacken, Brigitte, Betancur, Catalina
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2012
Témata:
On-line přístup: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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