Sökning: "Gillespie syndrome"

Hittade 1 avhandling innehållade orden Gillespie syndrome.

1. 1. On Aniridia in Sweden and Norway

   Författare :Ulla Edén; Lund Oftalmologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Gillespie syndrome; Aniridia; PAX6 gene;

   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