Article
Genetic association and characterization of FSTL5 in isolated clubfoot.
Human molecular genetics - 21 Jan 2021
Khanshour Anas M, Kidane Yared H, Kozlitina Julia, Cornelia Reuel, Rafipay Alexandra, De Mello Vanessa, Weston Mitchell, Paria Nandina, Khalid Aysha, Hecht Jacqueline T, Dobbs Matthew B, Richards B Stephens, Vargesson Neil, Hamra F Kent, Wilson Megan, Wise Carol, Gurnett Christina A, Rios Jonathan J
Abstract excerpt
Talipes equinovarus (clubfoot, TEV) is a congenital rotational foot deformity occurring in 1 per 1000 births with increased prevalence in males compared with females. The genetic etiology of isolated clubfoot (iTEV) remains unclear. Using a genome-wide association study, we identified a locus within FSTL5, encoding follistatin-like 5, significantly associated with iTEV. FSTL5 is an uncharacterized gene whose...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.