Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type

European Journal of Human Genetics 2026 Open access

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Authors: Elsa Lucas‐Castro, Rosario Ramos Mejía, Víctor Sánchez-Gaya, Álvaro Rada-Iglesias, Silvia Caíno, Virginia Fano, Karen Elise Heath

DOI: 10.1038/s41431-026-02124-8

Cited by: 1

References: 19

Fields of Study & Subjects

Genomic variations and chromosomal abnormalities TGF-β signaling in diseases Developmental Biology and Gene Regulation

References 19