Review
Open access
Aug 2026
Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.
This work collected cases of HTX investigated by trio-based whole-exome (WES) and whole-genome sequencing (WGS) and performed detailed clinical and molecular characterization in seven children and fetuses from France and Vietnam and revealed significant phenotypic heterogeneity while highlighting strong genotype-phenotype correlations.
Thi Bich Tuyen Ho, Alicia Coudert, Thi Thuy Hang Do et al.
· Clinical Genetics · 0 citations