Condition: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT


rs137854464 in FBN1 gene and ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT PMID 11700157 2001 Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

PMID 8188302 1994 A novel mutation of the fibrillin gene causing ectopia lentis.

PMID 17657824 2007 The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.

PMID 12203992 2002 TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.

PMID 11826022 2002 Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.

PMID 22237449 2012 Evaluation of the adolescent or adult with some features of Marfan syndrome.