Primary trabeculodysgenesis in association with neonatal Marfan syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference20 articles.
1. The development of the trabecular meshwork and its abnormality in primary infantile glaucoma;Anderson;Trans Am Ophthalmol Soc,1981
2. Revised genomic organisation of FBN1 and significance for regulated gene expression;Biery;Genomics,1999
3. Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy;Biggin;Hum Mutat,2004
4. Novel exon skipping mutation in the fibrillin-1 gene: Two ‘hot spots’ for neonatal Marfan syndrome;Booms;Clin Genet,1999
5. Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency;Buntix;J Med Genet,1991
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