Identification of Clinically Relevant Variants by Whole Exome Sequencing in Chinese Patients with Sporadic Non-syndromic Type A Aortic Dissection.

CONCLUSIONS: The variants identified in our research might not only result in the occurrence of ATAAD, but also add complexities and difficulties to the clinical practice. Our data demonstrated that WES was an effective tool for determining genetic etiologies of non-syndromic ATAAD and could be helpful in genetic counseling for ATAAD patients and their at-risk family members.
PMID: 32209317 [PubMed - as supplied by publisher]

Source: International Journal of Clinical Chemistry - March 20, 2020 Category: Chemistry Authors: Zhao H, Yang Y, Pan X, Li W, Sun L, Guo J Tags: Clin Chim Acta Source Type: research