Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1

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dc.contributor.authorEkure, E. N.
dc.contributor.authorMusa, K. O.
dc.contributor.authorUlonnam, N.
dc.contributor.authorKruszka, P.
dc.contributor.authorMuenke, M.
dc.contributor.authorAdeyemo, A. A,
dc.date.accessioned2023-07-04T09:52:51Z
dc.date.available2023-07-04T09:52:51Z
dc.date.issued2023-06-14
dc.descriptionScholarly article
dc.description.abstractNeurofibromatosis type 1 is an autosomal dominant multisystemic disease caused by mutation of the neurofibromin (NF1) gene located on chromosome 17q11. 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-Saharan Africa. In addition, a literature review of congenital heart diseases associated with Neurofibromatosis 1 is presented.
dc.description.sponsorshipNational Institutes of Health
dc.identifier.citationEkure, E. N., Musa, K. O., Ulonnam, N., Kruszka, P., Muenke, M., & Adeyemo, A. A. (2023). Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1. American journal of medical genetics. Part A, 10.1002/ajmg.a.63317. Advance online publication. https://doi.org/10.1002/ajmg.a.63317
dc.identifier.issndoi.org/10.1002/ajmg.a.63317
dc.identifier.urihttps://ir.unilag.edu.ng/handle/123456789/12511
dc.language.isoen
dc.publisherJohn Wiley Publishers
dc.titleAmbiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1
dc.typeArticle
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