Article
Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother.
Ophthalmic genetics - 1 Jun 2008
Khan Arif O, Aldahmesh Mohammad A, Al-Amri Abdullah
Abstract excerpt
PURPOSE: To report the genetic basis for congenital glaucoma with clinical aniridia in an infant and a milder phenotype in her mother. METHODS: Prospective case series. RESULTS: An infant girl with almost complete lack of iris tissue was referred and treated for congenital glaucoma. Although the presumed clinical diagnosis was aniridia (On-line Mendelian Inheritance in Man [OMIM] AN2, # 106210), PAX6 sequencing...
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