Associated Papers
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes.
Mokhtari A et al.
Clinical Genetics, 2026
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.
Jacobs J et al.
Nature, 2025
40836090 (PubMed )
Supplement: 41586_2025_9397_MOESM1_ESM.pdf
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