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Article

Double somatic mosaicism in Marfan syndrome.

American journal of medical genetics. Part A - 1 Dec 2024

Carrera Ignacio Arroyo, Amor-Salamanca Almudena, Isidro Elena Márquez, Pérez-Barbeito Marlene, Sacristán Ana Raquel Barrio, Ochoa Juan Pablo

Abstract excerpt

Marfan syndrome (MFS) is a hereditary systemic connective tissue disorder with great clinical variability. It is caused by heterozygous pathogenic variants in the FBN1 gene. Cardinal manifestations involve the cardiovascular, ocular, and skeletal systems. Clinical diagnosis is based on the revised Ghent nosology. We present the case of a child with a Marfan systemic score of 9 whose genetic study revealed two...

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Identifiers

PMID: 39149856
DOI: 10.1002/ajmg.a.63831

Genes

FBN1

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