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Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their frequency should be much higher due to balanced states with no phenotypic presentation. Th...

詳細記述

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書誌詳細
主要な著者: Roberti, Maria Cristina, Surace, Cecilia, Digilio, Maria Cristina, D'Elia, Gemma, Sirleto, Pietro, Capolino, Rossella, Lombardo, Antonietta, Tomaiuolo, Anna Cristina, Petrocchi, Stefano, Angioni, Adriano
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2011
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3096895/
https://ncbi.nlm.nih.gov/pubmed/21504564
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-6-17
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