Associated Papers
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx
Ectopia lentis as the presenting and primary feature in Marfan syndrome.
Zadeh N et al.
American Journal of Medical Genetics. Part A, 2011
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
Tiecke F et al.
European Journal of Human Genetics : Ejhg, 2001
Marfan Database (third edition): new mutations and new routines for the software.
Collod-Béroud G et al.
Nucleic Acids Research, 1998
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations.
Hayward C et al.
Human Mutation, 1997
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