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...
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 |
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Format: | Article |
Language: | English |
Published: |
Hindawi Limited
2020-01-01
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Series: | Case Reports in Medicine |
Online Access: | http://dx.doi.org/10.1155/2020/5108052 |
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