Associated Papers
Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria.
Shin JH et al.
European Journal of Human Genetics : Ejhg, 2025
40169830 (PubMed )
Supplement: 41431_2025_1826_MOESM3_ESM.xlsx › Supplementary_Table_2
Clinical and Genetic Landscape of Ectopia Lentis Based on a Cohort of Patients From 156 Families.
Guo D et al.
Investigative Ophthalmology & Visual Science, 2024
38190127 (PubMed )
Supplement: iovs-65-1-20_s002.pdf
Human stem cell models for Marfan syndrome: a brief overview of the rising star in disease modelling.
Aalders J et al.
Frontiers in Cell and Developmental Biology, 2024
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome.
Fernández-Álvarez P et al.
Journal of Medical Genetics, 2022
Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.
Li J et al.
Molecular Genetics & Genomic Medicine, 2021
Novel Marfan Syndrome-Associated Mutation in the FBN1 Gene Caused by Parental Mosaicism and Leading to Abnormal Limb Patterning.
Martínez-Quintana E et al.
Molecular Syndromology, 2017
Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.
Zhurayev R et al.
Genetics Research, 2016
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