A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye
- 28 February 2001
- journal article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 68 (2), 364-372
- https://doi.org/10.1086/318183
Abstract
No abstract availableKeywords
This publication has 23 references indexed in Scilit:
- Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and GlaucomaAmerican Journal of Human Genetics, 2000
- Chromosomal Duplication Involving the Forkhead Transcription Factor GeneFOXC1Causes Iris Hypoplasia and GlaucomaAmerican Journal of Human Genetics, 2000
- Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25European Journal of Human Genetics, 2000
- Expression of theMf1 gene in developing mouse hearts: Implication in the development of human congenital heart defectsDevelopmental Dynamics, 1999
- The Two-Exon Gene of the Human Forkhead Transcription Factor FREAC-2 (FKHL6) Is Located at 6p25.3Genomics, 1998
- Mutations of the Forkhead/Winged-Helix Gene, FKHL7, in Patients with Axenfeld-Rieger AnomalyAmerican Journal of Human Genetics, 1998
- Familial Glaucoma Iridogoniodysplasia Maps to a 6p25 Region Implicated in Primary Congenital Glaucoma and Iridogoniodysgenesis AnomalyAmerican Journal of Human Genetics, 1997
- Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndromeNature Genetics, 1996
- Number of people with glaucoma worldwide.British Journal of Ophthalmology, 1996
- PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defectsNature Genetics, 1994