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- W1991550392 abstract "Megalocornea—mental retardation syndrome, otherwise known as Neuhauser syndrome, is a rare autosomal recessive disorder. Only 36 cases have been reported in the literature. We describe the clinical and instrumental follow-up, lasting 5 years, of a case showing the typical features of the syndrome, associated with transient hypothyroidism, epilepsy, cerebral palsy with choreoathetotic movements, and brain malformation. Our report might help better delineate the phenotype and natural history of the syndrome. (J Child Neurol 2006;21:893—896; DOI 10.2310/ 7010.2006.00202)." @default.
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- W1991550392 date "2006-10-01" @default.
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- W1991550392 title "Megalocornea and Mental Retardation Syndrome: Clinical and Instrumental Follow-Up of a Case" @default.
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- W1991550392 doi "https://doi.org/10.1177/08830738060210100801" @default.
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