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Hindi Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790
Dawn Ardito Author
Subjects of specialization
Affiliation
Whole Exome Sequencing
Department of Surgery, Yale School of Medicine, New Haven CT, USA
Biography
Dawn Ardito belongs to Department of Surgery intrested in the field Whole Exome Sequencing, Aorta, TAA, FTAA, MYH11Non-standard from Yale School of Medicine, New Haven CT, USA
Publications
Case Report Subscription
Single Amino Acid Deletion in MYH11 Segregating in a Family with TAAD
Author(s): Pawel T Pomianowski, Daniel Dykas, Murim Choi, Jingshing Wu, Gregory A Kuzmik, Dawn Ardito, Sandip Mukherjee and John A Elefteriades
Single Amino Acid Deletion in MYH11 Segregating in a Family with TAAD
Background Seven genes have been identified as causative in the development of thoracic aortic aneurysms (TAA) and dissections (TAAD). In this study, we identify a single amino acid deletion in MYH11 gene which segregates with disease in a large TAAD family. Methods We identified five members in one family who had a history of TAA or TAAD. Blood samples from fifteen members of this family were collected for whole exome sequenc... view more»
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