Hypo- and Hypermorphic FOXC1 Mutations in Dominant Glaucoma: Transactivation and Phenotypic Variability

Author:

Medina-Trillo Cristina,Sánchez-Sánchez Francisco,Aroca-Aguilar José-Daniel,Ferre-Fernández Jesús-José,Morales Laura,Méndez-Hernández Carmen-Dora,Blanco-Kelly Fiona,Ayuso Carmen,García-Feijoo Julián,Escribano Julio

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference52 articles.

1. Congenital glaucoma due to dominant goniodysgenesis. A new concept of the heredity of glaucoma;T Jerndal;Am J Hum Genet,1983

2. Congenital glaucoma of dominant autosomal transmission apropos of a family;N Simha;Management. Bull Soc Ophtalmol Fr,1989

3. The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma;S Chakrabarti;Invest Ophthalmol Vis Sci,2009

4. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21;I Stoilov;Hum Mol Genet,1997

5. Null mutations in LTBP2 cause primary congenital glaucoma;M Ali;Am J Hum Genet,2009

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