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Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review

BACKGROUND: Duplications or deletions in the 12q13.13 region are rare. Only scattered cases with duplications and/or deletions in this region have been reported in the literature or in online databases. Owing to the limited number of patients with genomic alteration within this region and lack of sy...

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Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: Hu, Jie, Ou, Zhishuo, Infante, Elena, Kochmar, Sally J., Madan-Khetarpal, Suneeta, Hoffner, Lori, Parsazad, Shafagh, Surti, Urvashi
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5477234/
https://ncbi.nlm.nih.gov/pubmed/28649281
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-017-0326-4
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