Sökning: "Aniridia Gillespie syndrome PAX6 gene"
Hittade 1 avhandling innehållade orden Aniridia Gillespie syndrome PAX6 gene.
1. On Aniridia in Sweden and Norway
Sammanfattning : Introduction Aniridia (iris more or less missing), is a congenital, dominant, inherited, serious and sight-threatening disease, most often appearing as an isolated eye disorder. It is caused by mutations in the PAX6 gene, the master gene of the development of the eye. Typically, Aniridia causes severe visual impairment. LÄS MER
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