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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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Detalles Bibliográficos
Autores principales: Hu, Jie, Ou, Zhishuo, Infante, Elena, Kochmar, Sally J., Madan-Khetarpal, Suneeta, Hoffner, Lori, Parsazad, Shafagh, Surti, Urvashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
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