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Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome

We characterized at the molecular level the genomic rearrangements in 28 unrelated patients with 9q34.3 subtelomeric deletions. Four distinct categories were delineated: terminal deletions, interstitial deletions, derivative chromosomes and complex rearrangements; each results in haploinsufficiency...

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Bibliografiske detaljer
Main Authors: Yatsenko, Svetlana A., Brundage, Ellen K., Roney, Erin K., Cheung, Sau Wai, Chinault, A. Craig, Lupski, James R.
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2009
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2678925/
https://ncbi.nlm.nih.gov/pubmed/19293338
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp114
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