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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Detalles Bibliográficos
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
Descripción
Sumario: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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