Characteristic Face: A Key Indicator for Direct Diagnosis of 22q11.2 Deletions in Chinese Velocardiofacial Syndrome Patients

Velocardiofacial syndrome (VCFS) is a disease in human with an expansive phenotypic spectrum and diverse genetic mechanisms mainly associated with copy number variations (CNVs) on 22q11.2 or other chromosomes. However, the correlations between CNVs and phenotypes remain ambiguous. This study aims to...

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Detalles Bibliográficos
Autores principales: Wu, Dandan, Chen, Yang, Xu, Chen, Wang, Ke, Wang, Huijun, Zheng, Fengyun, Ma, Duan, Wang, Guomin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3547028/
https://www.ncbi.nlm.nih.gov/pubmed/23342150
http://dx.doi.org/10.1371/journal.pone.0054404

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