Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation-Reference-Cited by-同舟云学术

Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation

Published:2014-04 Issue:2 Volume:18 Page:134-139
ISSN:1091-8531
Container-title:Journal of American Association for Pediatric Ophthalmology and Strabismus
language:en
Short-container-title:Journal of American Association for Pediatric Ophthalmology and Strabismus

Author:

Khan Arif O.,Bolz Hanno J.,Bergmann Carsten

Publisher

Elsevier BV

Subject

Ophthalmology,Pediatrics, Perinatology, and Child Health

Reference46 articles.

1. Ascending aortic aneurysm with or without features of Marfan syndrome and other fibrillinopathies: new insights;Furthmayr;Semin Thorac Cardiovasc Surg,1997

2. Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies;Hayward;Hum Mutat,1997

3. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies;Robinson;Hum Mutat,2002

4. Revised diagnostic criteria for the Marfan syndrome;De Paepe;Am J Med Genet,1996

5. The revised Ghent nosology for the Marfan syndrome;Loeys;J Med Genet,2010

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