Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease.
Zervos, A
Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease. [electronic resource] - European journal of ophthalmology - 253-61 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1120-6721
10.1177/112067210201200401 doi
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
Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease. [electronic resource] - European journal of ophthalmology - 253-61 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1120-6721
10.1177/112067210201200401 doi
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