The first patient with a pure 1p36 microtriplication associated with severe clinical phenotypes

BACKGROUND: Copy Number Variants (CNVs) is a new molecular frontier in clinical genetics. CNVs in 1p36 are usually pathogenic and have attracted the attention of cytogeneticists worldwide. None of 1p36 triplication has been reported thus far. RESULTS: We present three patients with CNVs in 1p36. Amo...

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Detalles Bibliográficos
Autores principales: Xu, Fang, Zhang, Ya-Nan, Cheng, De-Hua, Tan, Ke, Zhong, Chang-Gao, Lu, Guang-Xiu, Lin, Ge, Tan, Yue-Qiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198684/
https://www.ncbi.nlm.nih.gov/pubmed/25324898
http://dx.doi.org/10.1186/s13039-014-0064-9

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