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Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy.

Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The differentia...

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Autores principales: Begeer, J H, Scholte, F A, van Essen, A J
Formato: Artigo
Lenguaje:Inglês
Publicado: 1991
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1017170/
https://ncbi.nlm.nih.gov/pubmed/1661780
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