Article
Phenotypic variations in patients with a 1630 A>T point mutation in the PAX6 gene.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie - 1 Apr 2004
De Becker Inge, Walter Michael, Noël Léon-Paul
Abstract excerpt
BACKGROUND: The extreme clinical case-to-case variability of aniridia, even within families, can cause difficulties in making the correct diagnosis, prognosis and treatment plan. We describe seven patients from two families demonstrating variable expression of this syndrome, all with the same single point mutation within the PAX6 gene. METHODS: Case presentations. The authors review the clinical ophthalmic...
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