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The Genetics of Microdeletion and Microduplication Syndromes: An Update

Chromosomal abnormalities, including microdeletions and microduplications, have long been associated with abnormal developmental outcomes. Early discoveries relied on a common clinical presentation and the ability to detect chromosomal abnormalities by standard karyotype analysis or specific assays...

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Détails bibliographiques
Publié dans:Annu Rev Genomics Hum Genet
Auteurs principaux: Watson, Corey T., Marques-Bonet, Tomas, Sharp, Andrew J., Mefford, Heather C.
Format: Artigo
Langue:Inglês
Publié: 2014
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4476258/
https://ncbi.nlm.nih.gov/pubmed/24773319
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1146/annurev-genom-091212-153408
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