Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes

• Main Authors: Chureerat Phokaew, Rekwan Sittiwangkul, Kanya Suphapeetiporn, Vorasuk Shotelersuk
• Format: Journal
• Published: 2020
• Subjects: Biochemistry, Genetics and Molecular Biology; Medicine
• Online Access: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85086602743&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/70183
• Institution: Chiang Mai University

© 2020 A phenotype of an individual is resulted from an interaction among variants in several genes. Advanced molecular technologies allow us to identify more patients with mutations in more than one genes. Here, we studied a Thai woman with combined clinical features of Marfan (MFS) and Beals (BS)...