Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease. [electronic resource]
Producer: 20030121Description: 253-61 p. digitalISSN:- 1120-6721
- Abnormalities, Multiple -- genetics
- Brain -- abnormalities
- Chromosomes, Human, Pair 1 -- genetics
- Eye Abnormalities -- genetics
- Eye Diseases, Hereditary -- genetics
- Fatal Outcome
- Female
- Genotype
- Glaucoma -- congenital
- Humans
- Infant
- Intellectual Disability -- genetics
- Magnetic Resonance Imaging
- Male
- Muscular Dystrophies -- congenital
- Ocular Hypotension -- genetics
- Optic Nerve -- abnormalities
- Pedigree
- Retina -- abnormalities
- Siblings
- Strabismus -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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