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retinal dysplasia/atassia
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Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.
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Joubert syndrome (JS) is an autosomal recessive developmental brain condition characterized by hypoplasia/dysplasia of the cerebellar vermis and by ataxia, hypotonia, oculomotor apraxia, and neonatal breathing dysregulation. A form of JS that includes retinal dysplasia and cystic dysplastic kidneys
The pathology of blindness in new-born calves caused by hypovitaminosis A.
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Blindness attributed to vitamin A deficiency afflicted 47 out of 197, and 15 out of 29 new-born dairy calves on 2 farms. Other clinical signs included doming of the forehead, thickening of the carpal joints, incoordination and weakness. Gross lesions in 8 of the calves examined consisted in
Encephalomyelopathy and polyneuropathy associated with neuronal vacuolation in two Boxer littermates.
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Neuronal vacuolation and spinocerebellar degeneration is a rare, presumably inherited condition that is reported only in Rottweilers and in crossbred dogs with known or potential Rottweiler heritage. Gross and histopathologic findings include laryngeal muscle atrophy, neuronal vacuolation, and a
Joubert syndrome: review and report of seven new cases.
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Joubert syndrome (JS) is an autosomal-recessive disorder, characterized by hypotonia, ataxia, global developmental delay and molar tooth sign on magnetic resonance imaging. A variety of other abnormalities have been described in children with JS, including abnormal breathing, abnormal eye movements,
Congenital Microphthalmic Syndrome in a Swine.
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A 17-week-old crossbred finishing pig was presented for lameness of approximately one week. Clinical evaluation, including ophthalmologic examination, revealed ataxia, partial flaccid paresis of the pelvic limbs, skin lesions at feet and claws, and severely reduced vision/blindness. Both eyes had
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