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Article

Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.

Journal of medical genetics - 19 Apr 2024

Arnaud Pauline, Mougin Zakaria, Baujat Genevieve, Drouin-Garraud Valérie, El Chehadeh Salima, Gouya Laurent, Odent Sylvie, Jondeau Guillaume, Boileau Catherine, Hanna Nadine, Le Goff Carine

Abstract excerpt

BACKGROUND: Marfan syndrome (MFS) is a multisystem disease with a unique combination of skeletal, cardiovascular and ocular features. Geleophysic/acromicric dysplasias (GPHYSD/ACMICD), characterised by short stature and extremities, are described as 'the mirror image' of MFS. The numerous FBN1 pathogenic variants identified in MFS are located all along the gene and lead to the same final pathogenic sequence....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38458756
DOI: 10.1136/jmg-2023-109646
PMCID: PMC11041597

Genes

FBN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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