Deciphering the mutational signature of congenital limb malformations

Congenital limb malformations (CLMs) affect 1 in 500 live births. However, the value of exome sequencing (ES) for CLM is lacking. The purpose of this study was to decipher the mutational signature of CLM on an exome level. We enrolled a cohort of 66 unrelated probands (including 47 families) with CL...

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Detalles Bibliográficos
Autores principales: Sun, Liying, Huang, Yingzhao, Zhao, Sen, Zhao, Junhui, Yan, Zihui, Guo, Yang, Lin, Mao, Zhong, Wenyao, Yin, Yuehan, Chen, Zefu, Zhang, Nan, Zhang, Yuanqiang, Zhao, Zongxuan, Li, Qingyang, Wang, Lianlei, Dong, Xiying, Li, Yaqi, Li, Xiaoxin, Qiu, Guixing, Zhang, Terry Jianguo, Wu, Zhihong, Tian, Wen, Wu, Nan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Gene & Cell Therapy 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8141661/
https://www.ncbi.nlm.nih.gov/pubmed/34094714
http://dx.doi.org/10.1016/j.omtn.2021.04.012

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