Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction

We describe the phenotype of a patient with extensive aortic, carotid, and abdominal dissections. The proband was found to have a heterozygous deletion of exons 21–34 in MYLK, which is a rare finding, as deletions in this gene have been infrequently reported. We describe this finding following detec...

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Bibliographic Details
Main Authors: Sarah K. Macklin, Katelyn A. Bruno, Charitha Vadlamudi, Haytham Helmi, Ayesha Samreen, Ahmed N. Mohammad, Stepahnie Hines, Paldeep S. Atwal, Thomas R. Caulfield
Format: Article
Language:English
Published: Hindawi Limited 2020-01-01
Series:Case Reports in Medicine
Online Access:http://dx.doi.org/10.1155/2020/5108052