Pawel T Pomianowski Author
Subjects of specialization
Affiliation
Exome Sequencing
Department of Veterans Affairs, West Haven, CT, USA
Pawel T Pomianowski belongs to Department of Veterans Affairs intrested in the field Whole Exome Sequencing, Aorta, TAA, FTAA, MYH11Non-standard from West Haven, CT, USA
Case Report Subscription
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 moreĀ»