Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome
β Scribed by Sood, Sumesh; Eldadah, Zayz A.; Krause, Wilma L.; Mclntosh, Iain; Dietz, Harry C.
- Book ID
- 109915205
- Publisher
- Nature Publishing Group
- Year
- 1996
- Tongue
- English
- Weight
- 291 KB
- Volume
- 12
- Category
- Article
- ISSN
- 1061-4036
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Fibrillin is the major component of extracellular microfibrils and is widely distributed in connective tissue throughout the body. Mutations in the fibrillin-1 (FBN1) gene, on chromosome 15q21.1, have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically va
Mutations in the gene encoding fibrillin-1 (FBN1) cause Marfan syndrome (MFS) and other related connective tissue disorders. In this study we performed SSCP to analyze all 65 exons of the FBN1 gene in 76 patients presenting with classical MFS or related phenotypes. We report 7 missense mutations, 3
Inheritance of the syndrome is suggested to be autosomal recessive. Electroencephalogram (EEG) was abnormal in four of five individuals studied. The brain computed tomography (CT) was abnormal in 9 of 10 individuals and the abnormalities included a small and thick vault, irregular margins of the ven