Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes.

Abstract excerpt

Congenital limb anomalies remain without an etiological diagnosis in up to 65% of patients. To help close this gap, we describe the genetic diagnostic outcomes of a large cohort. Patients whose primary indication for genetic consultation was a limb anomaly were included from 2014 to 2024. Demographic, investigation, and diagnostic information were extracted, described, and compared. One hundred and thirty-two...

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• Child, Preschool
• Exome Sequencing
• Genetic Association Studies
• Homeodomain Proteins
• Infant