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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Detalles Bibliográficos
Autores principales: Macklin, Sarah K., Bruno, Katelyn A., Vadlamudi, Charitha, Helmi, Haytham, Samreen, Ayesha, Mohammad, Ahmed N., Hines, Stephanie, Atwal, Paldeep S., Caulfield, Thomas R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7327611/
https://www.ncbi.nlm.nih.gov/pubmed/32655646
http://dx.doi.org/10.1155/2020/5108052

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7327611/
https://www.ncbi.nlm.nih.gov/pubmed/32655646
http://dx.doi.org/10.1155/2020/5108052

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