The clinical significance of 15q11.2 BP1-BP2 duplications: - Where do we stand?

The 15q11.2-q13 region has been well characterized, being associated with a range of syndromatic copy number variants (CNVs), and comprises five established break points sites (BP1 to BP5). While the clinical effect for BP1-BP3, BP2-BP3 and BP4-BP5 CNVs is well established, the same cannot be said f...

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Bibliographic Details
Main Author: Serafim, Silvia (author)
Other Authors: Marques, Bárbara (author), Pedro, Sónia (author), Brito, Filomena (author), Dupont, Juliett (author), Moldovan, Oana (author), Silveira-Santos, Rosário (author), Custódio, Sónia (author), Sousa, Ana (author), Sousa, Ana Berta (author), de Sá, Joaquim (author), Queiroz, M. (author), Vicente, Lurdes (author), Correia, Hildeberto (author)
Format: conferenceObject
Language:eng
Published: 2016
Subjects:
Intellectual Disability
15q11.2 Duplication
Microarray
Doenças Genéticas
Online Access:http://hdl.handle.net/10400.18/3927
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/3927

Internet

http://hdl.handle.net/10400.18/3927

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