Marfan Syndrome Caused by Disruption of the <i>FBN1</i> Gene due to A Reciprocal Chromosome Translocation
Marfan syndrome (MFS) is a hereditary connective tissue disease caused by heterozygous mutations in the fibrillin-1 gene (<i>FBN1</i>) located on chromosome 15q21.1. A complex chromosomal rearrangement leading to MFS has only been reported in one case so far. We report on a mother and da...
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| Auteurs principaux: | , , , , , , , , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
MDPI AG
2021
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| Accès en ligne: | https://doaj.org/article/420d3776f61b410daa13a92f8140dc7b |
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