Associated Papers
A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay.
Moriwaki T et al.
Human Genome Variation, 2023
[Progeroid syndromes : Aging, skin aging, and mechanisms of progeroid syndromes].
Koschitzki K et al.
Dermatologie (heidelberg, Germany), 2023
37650893 (PubMed )
Supplement: 105_2023_5212_MOESM1_ESM.xlsx › Tabelle1
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.
Lin M et al.
Molecular Genetics & Genomic Medicine, 2020
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Miller KA et al.
Journal of Medical Genetics, 2017
Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.
Passarge E et al.
European Journal of Human Genetics : Ejhg, 2016
Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.
Jacquinet A et al.
European Journal of Medical Genetics, 2014
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