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Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders

7 Jan 2021

Abstract excerpt

Marfan syndrome (MFS) is a heritable connective tissue disorder (HCTD) caused by pathogenic variants in FBN1 that frequently occur de novo. Although individuals with somatogonadal mosaicisms have been reported with respect to MFS and other HCTD, the overall frequency of parental mosaicism in this pathology is unknown. In an attempt to estimate this frequency, we reviewed all the 333 patients with a...

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PMID: 33414558
DOI: 10.1038/s41431-020-00797-3

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