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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...
Autores principales: | Hu, Jie, Ou, Zhishuo, Infante, Elena, Kochmar, Sally J., Madan-Khetarpal, Suneeta, Hoffner, Lori, Parsazad, Shafagh, Surti, Urvashi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477234/ https://www.ncbi.nlm.nih.gov/pubmed/28649281 http://dx.doi.org/10.1186/s13039-017-0326-4 |
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