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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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Détails bibliographiques
Auteurs principaux: Mc Cormack, Adrian, Taylor, Juliet, Te Weehi, Leah, Love, Donald R., George, Alice M.
Format: Artigo
Langue:Inglês
Publié: Hindawi Publishing Corporation 2014
Sujets:
Accès en ligne: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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