Primary trabeculodysgenesis in association with neonatal Marfan syndrome

Whitelaw, C. M., Anwar, S., Ades, L. C., Gole, G. A., Elder, J. E. and Savarirayan, R. (2004) Primary trabeculodysgenesis in association with neonatal Marfan syndrome. American Journal of Medical Genetics Part A, 128A 4: 418-421. doi:10.1002/ajmg.a.30139


Author Whitelaw, C. M.
Anwar, S.
Ades, L. C.
Gole, G. A.
Elder, J. E.
Savarirayan, R.
Title Primary trabeculodysgenesis in association with neonatal Marfan syndrome
Journal name American Journal of Medical Genetics Part A   Check publisher's open access policy
ISSN 1552-4825
Publication date 2004-08
Sub-type Article (original research)
DOI 10.1002/ajmg.a.30139
Volume 128A
Issue 4
Start page 418
End page 421
Total pages 4
Place of publication Hoboken, U.S.A.
Publisher John Wiley & Sons
Collection year 2004
Language eng
Subject C1
321016 Opthalmology and Vision Science
730111 Hearing, vision, speech and their disorders
0604 Genetics
1113 Ophthalmology and Optometry
Abstract We present the clinical and ophthalmological findings in two infants with neonatal Marfan syndrome (nMFS) and primary trabeculodysgenesis (PT). Fibrillin 1 (FBN1) mutations were confirmed in both cases. Numerous eye anomalies have been recognized in infants with nMFS, but PT has not been reported previously. Our report expands the phenotype of nMFS, and highlights the importance of early and careful ophthalmological assessment of these infants. (C) 2004 Wiley-Liss, Inc.
Keyword Genetics & Heredity
Marfan Syndrome
Primary Trabeculodysgenesis
Congenital Glaucoma
Genomic Organization
Gene
Fbn1
Fibrillin
Mutation
Q-Index Code C1

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2005 Higher Education Research Data Collection
School of Medicine Publications
 
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Created: Wed, 15 Aug 2007, 03:46:58 EST