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Results 1 - 8 of 8 for Gillespie syndrome
  1. Gillespie syndrome is a disorder that involves eye abnormalities, weak muscle tone from birth (congenital hypotonia), problems with ...
  2. ... 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 ...
  3. Eye Diseases (National Library of Medicine)  
    Some eye problems are minor and don't last long. But some can lead to a permanent loss of vision. Common eye problems include: Refractive errors Cataracts - ...
  4. Aniridia (American Association for Pediatric Ophthalmology and Strabismus)  
    GLOSSARY, TERMS, ACRONYMS, PHRASES, DEFINITIONS, DICTIONARY ... Shows a single glossary entry ... Eye Diseases/Specifics ... Eye Diseases ... American Association for Pediatric ...
  5. ... EI, Howarth RJ, Robinson D. Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. Ophthalmic Genet. ...
  6. ... mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in ... Reynolds A, Williams DS, Gillespie PG, Muller U. Cadherin 23 is a component ...
  7. STD; STI; sexually transmitted disease; STI; sexually transmitted infection; congenital syphilis; HIV; sexually active; pregnant; how STIs are diagnosed; ...
  8. Vitamin D (Harvard School of Public Health)  
    Vitamin D/Start Here ... Vitamin D ... Vitamin D Deficiency/Start Here ... Vitamin D Deficiency ... Harvard School of Public Health ... For most people, the best way to get enough ...