Subject Recruitment
We obtained DNA samples from probands with ACD/MPV and their family members after obtaining their informed consent, using protocols approved by the Institutional Review Board for Human Subject Research at Baylor College of Medicine (H8712). The Cambridgeshire 4 Research Ethics Committee, UK, approved the study of a cohort of patients with esophageal atresia and associated malformations (reference 04/5/022). Patient D2 was ascertained via a study of prenatal malformations conducted at Addenbrooke's Hospital. This study was approved by Addenbrooke's Hospital Local Research Ethics Committee and by Cambridgshire 1 Research Ethics Committee, UK (reference 08/H0304/).