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Isolated Congenital Vertebral Anomaly and Sprengel's Deformity in a WBP11 Pathogenic Variant

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The pathogenic variant of WBP11 has been known as one of the various genetic causes of VACTERL syndrome. VACTERL syndrome is usually diagnosed with at least three clinical features of vertebral, heart, tracheal, esophageal, kidney, and limb anomalies. So far, ... ...