Like Father, Like Daughter—inherited cutis aplasia occurring in a family with Marfan syndrome: a case report

We present the case of a newborn with co‐occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father. This case details a previously unreported mutation in Marfan syndrome and describes a novel coinheritance of Marfan syn...

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Autores principales: Islam, Yasmin Florence Khodeja, Williams, Charles A., Schoch, Jennifer Jane, Andrews, Israel David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5224781/
https://www.ncbi.nlm.nih.gov/pubmed/28096993
http://dx.doi.org/10.1002/ccr3.750
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author Islam, Yasmin Florence Khodeja
Williams, Charles A.
Schoch, Jennifer Jane
Andrews, Israel David
author_facet Islam, Yasmin Florence Khodeja
Williams, Charles A.
Schoch, Jennifer Jane
Andrews, Israel David
author_sort Islam, Yasmin Florence Khodeja
collection PubMed
description We present the case of a newborn with co‐occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father. This case details a previously unreported mutation in Marfan syndrome and describes a novel coinheritance of Marfan syndrome and ACC.
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spelling pubmed-52247812017-01-17 Like Father, Like Daughter—inherited cutis aplasia occurring in a family with Marfan syndrome: a case report Islam, Yasmin Florence Khodeja Williams, Charles A. Schoch, Jennifer Jane Andrews, Israel David Clin Case Rep Case Reports We present the case of a newborn with co‐occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father. This case details a previously unreported mutation in Marfan syndrome and describes a novel coinheritance of Marfan syndrome and ACC. John Wiley and Sons Inc. 2016-12-20 /pmc/articles/PMC5224781/ /pubmed/28096993 http://dx.doi.org/10.1002/ccr3.750 Text en © 2016 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Islam, Yasmin Florence Khodeja
Williams, Charles A.
Schoch, Jennifer Jane
Andrews, Israel David
Like Father, Like Daughter—inherited cutis aplasia occurring in a family with Marfan syndrome: a case report
title Like Father, Like Daughter—inherited cutis aplasia occurring in a family with Marfan syndrome: a case report
title_full Like Father, Like Daughter—inherited cutis aplasia occurring in a family with Marfan syndrome: a case report
title_fullStr Like Father, Like Daughter—inherited cutis aplasia occurring in a family with Marfan syndrome: a case report
title_full_unstemmed Like Father, Like Daughter—inherited cutis aplasia occurring in a family with Marfan syndrome: a case report
title_short Like Father, Like Daughter—inherited cutis aplasia occurring in a family with Marfan syndrome: a case report
title_sort like father, like daughter—inherited cutis aplasia occurring in a family with marfan syndrome: a case report
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5224781/
https://www.ncbi.nlm.nih.gov/pubmed/28096993
http://dx.doi.org/10.1002/ccr3.750
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