Case report
Sep 2026
Expansion of the allelic and phenotypic spectrum of MED25-related developmental disorder: novel compound heterozygous variants with structural domain implications
The allelic and phenotypic spectrum of MED25-related developmental disorder is broadened and the need for comprehensive evaluation across molecular, structural, and phenotypic pathways to elucidate variant signature in rare genetic disease models correctly is highlighted.
Camilo Andrés Yidi, S. Jiménez, Nataly Alejandra Solano et al.
· Neurogenetics · 0 citations