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Gillespie syndrome
- ... gene mutations have been identified in people with Gillespie syndrome, a disorder that involves eye abnormalities, weak muscle ... intellectual disability. The ITPR1 gene mutations that cause Gillespie syndrome likely result in a protein with an altered ...
- ... EI, Howarth RJ, Robinson D. Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. Ophthalmic Genet. ...
- ... mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in ... Reynolds A, Williams DS, Gillespie PG, Muller U. Cadherin 23 is a component ...
