𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome

✍ 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.


πŸ“œ SIMILAR VOLUMES


Fibrillin-1 mutations in Marfan syndrome
✍ Caroline Hayward; David J. H. Brock πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 183 KB πŸ‘ 1 views

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

Mutation screening of the fibrillin-1 (F
✍ Kathrin Rommel; Matthias Karck; Axel Haverich; JΓΆrg Schmidtke; Mine Arslan-Kirch πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 38 KB

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

Magnetic resonance imaging abnormalities
✍ Ohnuma, Kei; Imaizumi, Kiyoshi; Masuno, Mitsuo; Nakamura, Mihoko; Kuroki, Yoshik πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 23 KB πŸ‘ 3 views

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