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A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features

Concurrent cryptic microdeletion and microduplication syndromes have recently started to reveal themselves with the advent of microarray technology. Analysis has shown that low-copy repeats (LCRs) have allowed chromosome regions throughout the genome to become hotspots for nonallelic homologous reco...

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書誌詳細
主要な著者: Mc Cormack, Adrian, Taylor, Juliet, Te Weehi, Leah, Love, Donald R., George, Alice M.
フォーマット: Artigo
言語:Inglês
出版事項: Hindawi Publishing Corporation 2014
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3932285/
https://ncbi.nlm.nih.gov/pubmed/24649381
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/658570
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