Article
Whole‑exome sequencing study identifies two novel rare variations associated with congenital talipes equinovarus.
Molecular medicine reports - 1 Jun 2020
Zhang Jing, Li Shang, Ma Suling, Liu Yan, Wang Xuan, Li Yazhou
Abstract excerpt
Congenital talipes equinovarus (CTEV) is a common birth defect with an unclear genetic pathogenesis that results from both genetic and environmental factors. The present study aimed to identify novel variants in patients with CTEV using whole‑exome sequencing (WES) and to investigate the genetic factors responsible for the development of CTEV.A cohort of nine neonates/infants with suspected CTEV was recruited....
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