Identification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case report

ConclusionsOur study indicating that a fetus carrying a novel nonsense variant ofLMX1B (c.844C>T, p.Gln282*) can exhibit isolated talipes equinovarus, which expands theLMX1B genotypic spectrum and is advantageous for genetic counseling.

Source: Molecular Genetics & Genomic Medicine - November 6, 2023 Category: Genetics & Stem Cells Authors: Jing Chen, Qinqin Xiang, Xiao Xiao, Bocheng Xu, Hanbing Xie, He Wang, Mei Yang, Shanling Liu Tags: CLINICAL REPORT Source Type: research