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The differential diagnosis of this syndrome is discussed including the syndromes described by Berman et al and Koletzko et al.<\/jats:p>","DOI":"10.1136\/jmg.28.12.884","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"884-885","source":"Crossref","is-referenced-by-count":17,"title":["Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy."],"prefix":"10.1136","volume":"28","author":[{"given":"J H","family":"Begeer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F A","family":"Scholte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A J","family":"van Essen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1991,12,1]]},"reference":[{"key":"ref_1","article-title":"The hereditary ataxias and related disorders","author":"Harding, A.E.","year":"1984","unstructured":"Harding AE. The hereditary ataxias and related disorders. Edinburgh: Churchill Livingstone, 1984."},{"key":"ref_2","volume-title":"The genetics of neurological disorders","author":"Baraitser, M.","year":"1982","unstructured":"Baraitser M. The genetics of neurological disorders. Oxford: Oxford University Press, 1982."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1001\/archneur.1973.00490280070010","article-title":"A new familial syndrome with ataxia, hearing loss, and mental retardation","volume":"29","author":"Berman, W.; Haslan, R.H.A.; Koningsmark, B.W.; Capute, A.J.; Migeon, C.J.","year":"1973","unstructured":"Berman W, Haslan RHA, Koningsmark BW, Capute AJ, Migeon CJ. A new familial syndrome with ataxia, hearing loss, and mental retardation. 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J Neurol Sci 1965;2:161-82.","journal-title":"J Neurol Sci"},{"issue":"43","key":"ref_10","first-page":"261","article-title":"Cataract, deafness, cerebellar ataxia, psychosis and dementia - a new syndrome","volume":"1970","author":"Stromgren, E.; Dalby, M.A.; Ranheim, B.","unstructured":"Stromgren E, Dalby MA, Ranheim B. Cataract, deafness, cerebellar ataxia, psychosis and dementia - a new syndrome. 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