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

In this study, we identified the fourth patient with both MFS and BS, carrying mutations in both FBN1 and FBN2.
PMID: 32534992 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - June 10, 2020 Category: Genetics & Stem Cells Authors: Phokaew C, Sittiwangkul R, Suphapeetiporn K, Shotelersuk V Tags: Eur J Med Genet Source Type: research