Marfan syndrome in South Africa – a molecular genetic approach to diagnosis

Journal Article

2007

Permanent link to this Item
http://hdl.handle.net/11427/24708
Files
Child_Article_2007.pdf (1.38 MB)
Authors
Child, A
Comeglio, P
Arno, G
Beighton, P
Journal Title

South African Medical Journal

Link to Journal
http://www.samj.org.za/index.php/samj
Journal ISSN
Volume Title
Publisher
Publisher

University of Cape Town

Department
Department of Medicine
Faculty
Faculty of Health Sciences
License
Series
Abstract
Marfan syndrome (MFS) (MIM 154700) is a heritable disorder of connective tissue characterised by excessive height and limb length disproportion, together with ocular, cardiovascular and skeletal manifestations. The condition is an autosomal dominant trait, and can be transmitted from generation to generation with variable severity. The determinant gene FBN1 is situated at the chromosomal locus 15q21.1 and codes for the protein fibrillin-1.
Description

Reference:

Child, A., Comeglio, P., Arno, G., & Beighton, P. (2007). Marfan syndrome in South Africa-a molecular genetic approach to diagnosis: scientific letter. South African Medical Journal, 97(9), 845-847.

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