Clinical and genomic evaluation of a Chinese patient with a novel deletion associated with Phelan–McDermid syndrome

Phelan–McDermid syndrome is a neurodevelopmental disorder caused by the terminal deletion of chromosome 22 (22q13) followed by the loss of function of the SHANK3 gene. Various terminal deletions of chromosome 22q13 are associated with Phelan–McDermid with a spectrum of phenotypic severity. Here, we...

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Detalles Bibliográficos
Autores principales: Lei, Dongzhu, Li, Shaoyuan, Banerjee, Santasree, Zhang, Haoqing, Li, Caiyun, Hou, Shuai, Chen, Danjing, Yan, Haiying, Li, Hanmei, peng, Huan Huan, Liu, Saijun, Zhang, Xinxin, Peng, Zhiyu, Wang, Jian, Yang, Huanming, Huang, Hui, Wu, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2016
Materias:
Research Paper: Chromosome
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5348323/
https://www.ncbi.nlm.nih.gov/pubmed/27741506
http://dx.doi.org/10.18632/oncotarget.12552

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