Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Chromosomal band 1q21.1 can be divided into two distinct regions, proximal and distal, based on segmental duplications that mediate recurrent rearrangements. Microdeletions and microduplications of the distal region within 1q21.1, which are susceptibility factors for a variety of neurodevelopmental...

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Autores principales: Rosenfeld, Jill A, Traylor, Ryan N, Schaefer, G Bradley, McPherson, Elizabeth W, Ballif, Blake C, Klopocki, Eva, Mundlos, Stefan, Shaffer, Lisa G, Aylsworth, Arthur S
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2012
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3376272/
https://ncbi.nlm.nih.gov/pubmed/22317977
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.6
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