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Gillespie syndrome
- Gillespie syndrome is a disorder that involves eye abnormalities, weak muscle tone from birth (congenital hypotonia), problems with ...
- ... 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 ...
- 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 - ...
- 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 ...
- ... 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 ...
- Sexually Transmitted Infections (STIs): Why Testing Is Important (American Academy of Pediatrics)STD; STI; sexually transmitted disease; STI; sexually transmitted infection; congenital syphilis; HIV; sexually active; pregnant; how STIs are diagnosed; ...
