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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Chromosomal band 1q21.1 can be divided into two distinct regions, proximal and distal, based on segmental duplications that mediate recurrent rearrangements. Microdeletions and microduplications of the distal region within 1q21.1, which are susceptibility factors for a variety of neurodevelopmental...

詳細記述

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書誌詳細
主要な著者: Rosenfeld, Jill A, Traylor, Ryan N, Schaefer, G Bradley, McPherson, Elizabeth W, Ballif, Blake C, Klopocki, Eva, Mundlos, Stefan, Shaffer, Lisa G, Aylsworth, Arthur S
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2012
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3376272/
https://ncbi.nlm.nih.gov/pubmed/22317977
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.6
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