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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)  
    What diseases can affect the eye? Even if your eyes feel healthy, you could have a problem and not know it. That's why regular eye exams are so important. ...
  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 Deficiency/Learn More ... Vitamin D Deficiency ... Harvard School of Public Health ... Vitamin D is both a nutrient we eat and a hormone our bodies make. It ...