A Rare Branch-Point Mutation Is Associated with Missplicing of Fibrillin-2 in a Large Family with Congenital Contractural Arachnodactyly
- 1 June 1997
- journal article
- case report
- Published by Elsevier in American Journal of Human Genetics
- Vol. 60 (6) , 1389-1398
- https://doi.org/10.1086/515472
Abstract
No abstract availableKeywords
This publication has 24 references indexed in Scilit:
- Fibrillin mutations in Marfan syndrome and related phenotypesCurrent Opinion in Genetics & Development, 1996
- Delineation of the Marfan phenotype associated with mutations in exons 23–32 of theFBN1 geneAmerican Journal of Medical Genetics, 1996
- Fibrillin–2 (FBN2) mutations result in the Marfan–like disorder, congenital contractural arachnodactylyNature Genetics, 1995
- Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndromeHuman Molecular Genetics, 1995
- Congenital contractural arachnodactyly (Beals syndrome).Journal of Medical Genetics, 1994
- Splice site choice and splicing efficiency are positively influenced by pre-mRNA intramolecular base pairing in yeastCell, 1993
- Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genesNature, 1991
- Signals for the selection of a splice site in pre-mRNAJournal of Molecular Biology, 1987
- Congenital contractural arachnodactyly Report of four additional families and review of literatureClinical Genetics, 1985
- Cardiovascular findings in congenital contractural arachnodactyly: Report of an affected kindredAmerican Journal of Medical Genetics, 1984