Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

The proximal long arm of chromosome 15 has segmental duplications located at breakpoints BP1–BP5 that mediate the generation of NAHR-related microdeletions and microduplications. The classical Prader-Willi/Angelman syndrome deletion is flanked by either of the proximal BP1 or BP2 breakpoints and the...

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Pubblicato in:Hum Genet
Autori principali: Burnside, Rachel D., Pasion, Romela, Mikhail, Fady M., Carroll, Andrew J., Robin, Nathaniel H., Youngs, Erin L., Gadi, Inder K., Keitges, Elizabeth, Jaswaney, Vikram L., Papenhausen, Peter R., Potluri, Venkateswara R., Risheg, Hiba, Rush, Brooke, Smith, Janice L., Schwartz, Stuart, Tepperberg, James H., Butler, Merlin G.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2011
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6814187/
https://ncbi.nlm.nih.gov/pubmed/21359847
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-011-0970-4
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