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Article

A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome.

Journal of medical genetics - 1 Jun 2022

Fernández-Álvarez Paula, Codina-Sola Marta, Valenzuela Irene, Teixidó-Turá Gisela, Cueto-González Anna, Paramonov Ida, Antolín María, López-Grondona Fermina, Vendrell Teresa, Evangelista Artur, García-Arumí Elena, Tizzano Eduardo F

Abstract excerpt

BACKGROUND: A proportion of de novo variants in patients affected by genetic disorders, particularly those with autosomal dominant (AD) inheritance, could be the consequence of somatic mosaicism in one of the progenitors. There is growing evidence that germline and somatic mosaicism are more common and play a greater role in genetic disorders than previously acknowledged. In Marfan syndrome (MFS), caused by...

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Identifiers

PMID: 33910934
DOI: 10.1136/jmedgenet-2020-107604

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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