A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

We report a recurrent 680-kb deletion within chromosome 15q13.3 in ten individuals, from four unrelated families, with neurodevelopmental phenotypes including developmental delay, mental retardation and seizures. This deletion likely resulted from nonallelic homologous recombination between low-copy...

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Główni autorzy: Shinawi, Marwan, Schaaf, Christian P, Bhatt, Samarth S, Xia, Zhilian, Patel, Ankita, Cheung, Sau Wai, Lanpher, Brendan, Nagl, Sandra, Herding, Heinrich Stephan, Nevinny-Stickel, Claudia, Immken, LaDonna L, Patel, Gayle Simpson, German, Jennifer Ruth, Beaudet, Arthur L, Stankiewicz, Pawel
Format: Artigo
Język:Inglês
Wydane: 2009
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Article
Dostęp online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3158565/
https://ncbi.nlm.nih.gov/pubmed/19898479
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.481
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