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GENATLAS PHENOTYPE

last update : 30/06/2006

Symbol	FVH
Location	11p13
Name	foveal hypoplasia and presenile cataract syndrome
Corresponding gene	PAX6
Main clinical features	isolated, with anterior segment anomalies
Genetic determination	autosomal dominant
Function/system disorder	eye
Type	disease

Gene product

Name	paired box containing protein, homologous to murine Pax 6