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dc.contributor.authorChilds, Alexandra J.
dc.contributor.authorMabin, David C.
dc.contributor.authorTurnpenny, Peter D.
dc.date.accessioned2020-11-17T14:18:40Z
dc.date.available2020-11-17T14:18:40Z
dc.date.issued2020-08
dc.identifier.citationChilds AJ, Mabin DC, Turnpenny PD. Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis. Am J Med Genet A. 2020 Aug;182(8):1939-1943. doi: 10.1002/ajmg.a.61628. Epub 2020 May 31.en_US
dc.identifier.pmid32476291
dc.identifier.doi10.1002/ajmg.a.61628
dc.identifier.urihttps://rde.dspace-express.com/handle/11287/621557
dc.description.abstractWe present the case of a male who shortly after birth developed acute respiratory distress due to bilateral choanal atresia, following which he was found to have rectal stenosis. Genetic testing for CHARGE syndrome was negative, but whole genome sequencing identified heterozygosity for a pathogenic missense variant in TP63 (c.727C > T, p.(Arg243Trp). He also has partial cutaneous syndactyly of the third and fourth fingers of the right hand, and bilateral lacrimal duct stenosis/aplasia. A later maxillofacial review identified a palpable submucousal cleft and his scalp hair is blond and slightly sparse. Choanal atresia and rectal stenosis are recognized features of ectrodactyly-ectodermal dysplasia-clefting syndrome, but we believe this is the first report of a case presenting with these features in the absence of the cardinal features.en_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.urlhttps://doi.org/10.1002/ajmg.a.61628en_US
dc.rights© 2020 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, LLC. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.en_US
dc.rightsCC0 1.0 Universal*
dc.rights.urihttp://creativecommons.org/publicdomain/zero/1.0/*
dc.subjectEEC syndromeen_US
dc.subjectTP63en_US
dc.subjectchoanal atresiaen_US
dc.subjectectrodactyly-ectodermal dysplasia-clefting syndromeen_US
dc.subjectrectal stenosisen_US
dc.titleEctrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosisen_US
dc.typeCase Reporten_US
dc.identifier.journalAmerican Journal of Medical Genetics. Part A.en_US
dc.description.noteThis article is freely available via Open Access. Click on the Publisher URL to access it via the publisher's site.en_US
dc.type.versionPublisheden_US
dc.description.admin-notepublished version, accepted version (12 month embargo), submitted versionen_US


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© 2020 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, LLC.

This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Except where otherwise noted, this item's license is described as © 2020 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, LLC. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.