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Results 1 - 6 of 6 for Aniridia 2
  1. Gillespie syndrome 
    ... been estimated that Gillespie syndrome accounts for about 2 percent of cases of aniridia. Gillespie syndrome is caused by mutations in the ... cerebellar ataxia-oligophrenia ... Zanni G. Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome. Gene. 2017 Sep 10; ...
    https://medlineplus.gov/genetics/condition/gillespie-syndrome - Genetics
  2. Aniridia 
    ... in the PAX6 gene in twenty patients with aniridia. Hum Mutat. 2000;15(4):332-9. doi: 10.1002/(SICI)1098-1004(200004)15:43.0.CO;2-1. Citation on PubMed Lee H, Khan R, ...
    https://medlineplus.gov/genetics/condition/aniridia - Genetics
  3. PAX6 gene 
    ... in the PAX6 gene in twenty patients with aniridia. Hum Mutat. 2000;15(4):332-9. doi: 10.1002/(SICI)1098-1004(200004)15:43.0.CO;2-1. Citation on PubMed Graziano C, D'Elia ...
    https://medlineplus.gov/genetics/gene/pax6 - Genetics
  4. WAGR syndrome 
    ... retardation and autism. Cytogenet Genome Res. 2008;122(2):181-7. doi: 10.1159/000172086. Epub 2008 Dec 18. Citation on PubMed
    https://medlineplus.gov/genetics/condition/wagr-syndrome - Genetics
  5. Chromosome 11 
    ... known as Wilms tumor, an eye problem called aniridia, genitourinary anomalies, and a range of developmental delays. ... PAX6 gene disrupts normal eye development, leading to aniridia and other eye problems, and it may also ...
    https://medlineplus.gov/genetics/chromosome/11 - Genetics
  6. ITPR1 gene 
    ... Williamson KA, FitzPatrick DR. The genetic architecture of aniridia and Gillespie syndrome. Hum Genet. 2019 Sep;138( ...
    https://medlineplus.gov/genetics/gene/itpr1 - Genetics