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Author

V. Satre

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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. · 0 citations
Open access Jul 2026

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly

NFIC-related disorder represents a novel neurodevelopmental syndrome characterized by intellectual disability and macrocephaly, highlighting the importance of NFIC dosage supporting a mirror-syndrome model.

Nathalie Vanden Eynde, L. Hérissant, E. Landais et al. · 0 citations

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