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VACTERL association

An association of congenital abnormalities: vertebral defects (V), ANAL ATRESIA (A), cardiac malformations (C) TRACHEOESOPHAGEAL FISTULA with ESOPHAGEAL ATRESIA (TE), radial or renal dysplasia (R), and limb anomalies (L). A heterozygous mutation in the HOXD13 gene has been identified. OMIM: 192350
Also Known As:
VACTEL Association; VACTERL Syndrome; Vertebral Anal Tracheoesophageal Esophageal Radial anomalies
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Context: Research Results