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Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization

BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome that is typically caused by a deletion of the distal portion of the short arm of chromosome 4. However, there are few reports about the features of Chinese WHS patients. This study aimed to characterize the clinical and molecul...

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Detalles Bibliográficos
Autores principales: Yang, Wen-Xu, Pan, Hong, Li, Lin, Wu, Hai-Rong, Wang, Song-Tao, Bao, Xin-Hua, Jiang, Yu-Wu, Qi, Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4804413/
https://www.ncbi.nlm.nih.gov/pubmed/26960370
http://dx.doi.org/10.4103/0366-6999.177996