Khattar and Suhrie (38) detected EFTUD2 mutations in two patients with EA/TEF, respectively NM_004247.3: c.969del and NM_001258353: c.969del, which are the same mutation occurring at the same position in different EFTUD2 transcripts. The gene discussed is EFTUD2; the disease is esophageal atresia/tracheoesophageal fistula.