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Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders

10 Jun 2019

Abstract excerpt

FBN1 encodes fibrillin 1, a key structural component of the extracellular matrix, and its variants are associated with a wide range of hereditary connective tissues disorders, such as Marfan syndrome (MFS) and mitral valve–aorta–skeleton–skin (MASS) syndrome. Interpretations of the genomic data and possible genotype–phenotype correlations in FBN1 are complicated by the high rate of intronic variants of unknown...

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PMID: 31185693
DOI: 10.3390/genes10060442

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