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...
Saved in:
Main Authors: | Sarah K. Macklin, Katelyn A. Bruno, Charitha Vadlamudi, Haytham Helmi, Ayesha Samreen, Ahmed N. Mohammad, Stephanie Hines, Paldeep S. Atwal, Thomas R. Caulfield |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2020-01-01
|
Series: | Case Reports in Medicine |
Online Access: | http://dx.doi.org/10.1155/2020/5108052 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis
by: Daigo Nishijo, et al.
Published: (2024-01-01) -
On the oppositions that underlie the distinctions displayed by Russian causal clauses
by: Pekelis Olga
Published: (2022-09-01) -
Monocyte Subsets, Stanford-A Acute Aortic Dissection, and Carotid Artery Stenosis: New Evidences
by: Noemi Cifani, et al.
Published: (2019-01-01) -
Differential coping capacities underlie the overall resistance of temperate seagrasses to herbivory
by: J. Boada, et al.
Published: (2024-12-01) -
An Off-Label Use of a Unibody Aortic Stent-Graft System for the Treatment of Infrarenal Abdominal Aortic Dissections
by: Joseph Faraj, et al.
Published: (2019-01-01)