Article
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.
Clinical genetics - 1 Aug 2001
Malandrini A, Mari F, Palmeri S, Gambelli S, Berti G, Bruttini M, Bardelli A M, Williamson K, van Heyningen V, Renieri A
Abstract excerpt
Congenital aniridia is due to deletions and point mutations in the PAX6 gene. We describe here a case of a mother and her two sons with a syndrome comprising congenital aniridia, ptosis, and slight mental retardation. The sons also show behavioral changes. The possibility of deletion around the PAX6 locus was excluded by polymorphism studies and fluorescence in situ hybridization analysis. Mutation screening of...
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