Skip to Main content Skip to Navigation
Journal articles

Marfan syndrome in the third Millennium.

Abstract : The Marfan syndrome (MFS) is a prominent member of heritable disorders of connective tissue with manifestations involving primarily the skeletal, ocular and cardiovascular systems but also and less systematically investigated the lung, skin and integument, and dura. Over the last two decades, a considerable amount of clinical, molecular and protein data had accumulated. In combination with the study of natural and transgenic animal models, this new information provides greater insight into the pathogenic mechanisms underlying not only the pleiotropic manifestations of MFS but also the important degree of clinical variability (age of onset and severity) observed between patients. The following aspects will be described in this review: the structure and function of fibrillin-1; the fibrillin proteins; mutations in the FBN1 gene and pathogenic mechanisms; animal models. Finally, the currently available laboratory diagnostic tests and their limits will be discussed.
Document type :
Journal articles
Complete list of metadatas

Cited literature [61 references]  Display  Hide  Download

https://www.hal.inserm.fr/inserm-00143603
Contributor : Gwenaëlle Collod-Beroud <>
Submitted on : Wednesday, December 20, 2017 - 6:26:55 PM
Last modification on : Wednesday, August 19, 2020 - 11:17:32 AM

File

 Restricted access
To satisfy the distribution rights of the publisher, the document is embargoed until : jamais

Please log in to resquest access to the document

Identifiers

Collections

Citation

Gwenaëlle Collod-Béroud, Catherine Boileau. Marfan syndrome in the third Millennium.. European Journal of Human Genetics, Nature Publishing Group, 2002, 10 (11), pp.673-81. ⟨10.1038/sj.ejhg.5200876⟩. ⟨inserm-00143603v2⟩

Share

Metrics

Record views

273