Associated Papers
Isolated congenital vertebral anomaly and Sprengel's deformity in a WBP11 pathogenic variant.
Shin BK et al.
European Journal of Medical Genetics, 2025
Diagnostic Yield of Trio Whole-Genome Sequencing in Children with Undiagnosed Developmental Delay or Congenital Anomaly: A Prospective Cohort Study.
Kim J et al.
Diagnostics (basel, Switzerland), 2024
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