Marfan Syndrome Caused by a Novel FBN1 Mutation With Associated Pigmentary Glaucoma

Mutations in fibrillin-1 (FBN1) cause a wide spectrum of disorders, including Marfan syndrome, which have in common defects in fibrillin-1 microfibrils. Ectopia lentis and myopia are frequently observed ocular manifestations of Marfan syndrome. Glaucoma is also associated with Marfan syndrome, thoug...

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Detalles Bibliográficos
Autores principales: Kuchtey, John, Chang, Ta Chen, Panagis, Lampros, Kuchtey, Rachel W
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2013
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3638319/
https://www.ncbi.nlm.nih.gov/pubmed/23444230
http://dx.doi.org/10.1002/ajmg.a.35838

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3638319/
https://www.ncbi.nlm.nih.gov/pubmed/23444230
http://dx.doi.org/10.1002/ajmg.a.35838

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