Deciphering the mutational signature of congenital limb malformations

• Main Authors: Liying Sun (Author), Yingzhao Huang (Author), Sen Zhao (Author), Junhui Zhao (Author), Zihui Yan (Author), Yang Guo (Author), Mao Lin (Author), Wenyao Zhong (Author), Yuehan Yin (Author), Zefu Chen (Author), Nan Zhang (Author), Yuanqiang Zhang (Author), Zongxuan Zhao (Author), Qingyang Li (Author), Lianlei Wang (Author), Xiying Dong (Author), Yaqi Li (Author), Xiaoxin Li (Author), Guixing Qiu (Author), Terry Jianguo Zhang (Author), Zhihong Wu (Author), Wen Tian (Author), Nan Wu (Author)
• Format: Book
• Published: Elsevier, 2021-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...