Associated Papers
Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome.
Bai Y et al.
Orphanet Journal of Rare Diseases, 2024
Perinatal diagnosis and management of early-onset Marfan syndrome: case report and systematic review.
Veiga-Fernández A et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2020
Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys-Dietz Syndrome.
Luo X et al.
Frontiers in Genetics, 2020
32528524 (PubMed )
Supplement: Data_Sheet_1.XLSX › variants_in_candidate_genes
De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation.
Wang S et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2017
A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.
Peng Q et al.
Bmc Pediatrics, 2016
Postmortem diagnosis of Marfan syndrome in a case of sudden death due to aortic rupture: Detection of a novel FBN1 frameshift mutation.
Wang Y et al.
Forensic Science International, 2016
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