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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Detaylı Bibliyografya
Yayımlandı:Mol Cytogenet
Asıl Yazarlar: Hu, Jie, Ou, Zhishuo, Infante, Elena, Kochmar, Sally J., Madan-Khetarpal, Suneeta, Hoffner, Lori, Parsazad, Shafagh, Surti, Urvashi
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2017
Konular:
Case Report
Online Erişim: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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