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-phenot...
Thi Bich Tuyen Ho, Alicia Coudert, Thi Thuy Hang Do et al.
· Clinical Genetics · 0 citations