Novel approach to the molecular diagnosis of Marfan syndrome: Application to sporadic cases and in prenatal diagnosis-Reference-Cited by-同舟云学术

Novel approach to the molecular diagnosis of Marfan syndrome: Application to sporadic cases and in prenatal diagnosis

Published:2001 Issue:4 Volume:99 Page:294-302
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Toudjarska Iva,Kilpatrick Michael W.,Lembessis Peter,Carra Scott,Harton Gary L.,Sisson Michael E.,Black Susan H.,Stern Harvey J.,Gelman-Kohan Zully,Shohat Mordechai,Tsipouras Petros

Publisher

Wiley

Subject

Genetics(clinical)

Reference31 articles.

1. Novel exon skipping mutation in the fibrillin-1 gene: Two ‘hot spots’ for the neonatal Marfan syndrome

2. Revised diagnostic criteria for the Marfan syndrome

3. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

4. Four Novel FBN1 Mutations: Significance for Mutant Transcript Level and EGF-like Domain Calcium Binding in the Pathogenesis of Marfan Syndrome

5. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

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