{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T22:57:41Z","timestamp":1780354661779,"version":"3.54.1"},"reference-count":9,"publisher":"Wiley","issue":"1-2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4797,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In 2 unrelated families 9 males presented with ataxia, apraxia, and neuropsychological abnormalities or mental deficiency, inherited as an X\u2010linked recessive syndrome with partial clinical expression in obligate female carriers. The symptoms were present in early childhood and were non\u2010progressive. Additional findings in 2 males were congenital \u201cclub\u2010feet\u201d and generalized seizures. The affected males were 13\u201062 years old at the time of our examination. Chromosome abnormalities including fragile X fra(X) could not be demonstrated in any case. Results of metabolic screenings were also normal. The clinical picture with X\u2010linked recessive inheritance distinguishes this syndrome from previously described inherited hereditary ataxias.<\/jats:p>","DOI":"10.1002\/ajmg.1320430174","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:41:29Z","timestamp":1118551289000},"page":"498-504","source":"Crossref","is-referenced-by-count":16,"title":["New X\u2010linked syndrome with apraxia, ataxia, and mental deficiency: Clinical, cytogenetic and neuropsychological studies in two Danish families"],"prefix":"10.1002","volume":"43","author":[{"given":"Lisbeth","family":"Tranebj\u00e6rg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"Lou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jente","family":"Andresen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1467-9450.1976.tb00231.x"},{"key":"e_1_2_1_3_1","volume-title":"Revised Visual Retention Test","author":"Benton AL","year":"1974"},{"key":"e_1_2_1_4_1","volume-title":"Contributions to Neuropsychological Assessment","author":"Benton AL","year":"1983"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0010-9452(71)80006-0"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.37.4.602"},{"key":"e_1_2_1_7_1","volume-title":"The Bender Gestalt Test for young children","author":"Koppitz EM","year":"1963"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.5.374"},{"key":"e_1_2_1_9_1","first-page":"514","article-title":"A new X\u2010linked syndrome with apraxia, ataxia and mental deficiency. Clinical, cytogenetic and neuropsychological studies in two Danish families","volume":"38","author":"Tranebj\u00e6rg L","year":"1991","journal-title":"Am J Med Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200405"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320430174","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320430174","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T17:20:28Z","timestamp":1693502428000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320430174"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,4,15]]},"references-count":9,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[1992,4,15]]}},"alternative-id":["10.1002\/ajmg.1320430174"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320430174","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,4,15]]}}}