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We report a case of Neurofibromatosis 1 with ambiguous genitalia, giant congenital melanocytic nevus, and associated subpulmonic outlet ventricular septal defect, hitherto unreported in sub\u2010Saharan Africa. In addition, a literature review of congenital heart diseases associated with Neurofibromatosis 1 is presented.<\/jats:p>","DOI":"10.1002\/ajmg.a.63317","type":"journal-article","created":{"date-parts":[[2023,6,14]],"date-time":"2023-06-14T09:08:32Z","timestamp":1686733712000},"page":"2411-2415","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8257-1864","authenticated-orcid":false,"given":"Ekanem N.","family":"Ekure","sequence":"first","affiliation":[{"name":"Department of Paediatrics, College of Medicine University of Lagos &amp; Lagos University Teaching Hospital Idi\u2010Araba  Lagos Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kareem O.","family":"Musa","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, College of Medicine University of Lagos &amp; 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