{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T02:13:43Z","timestamp":1792808023373,"version":"4.5.0"},"reference-count":28,"publisher":"Wiley","issue":"2-3","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":5240,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 4 generation family of individuals with an X\u2010linked form of mental retardation involving 9 affected males and 5 obligate carrier females. Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy\u2010Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to Hallervorden\u2010Spatz disease. Of the 5 known heterozygotes, 3 are dull intellectually, and one of the 3 developed a \u201cpresenile dementia.\u201d At autopsy she had iron deposition and neuroaxonal dystrophy in the basal ganglia and atrophy of the cerebral cortex. Although the clinical findings among relatives are variable, we conclude that this is a distinct, previously unrecognized X\u2010linked mental retardation syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320380206","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:09:12Z","timestamp":1118549352000},"page":"200-207","source":"Crossref","is-referenced-by-count":46,"title":["New X\u2010linked mental retardation disorder with Dandy\u2010Walker malformation, basal ganglia disease, and seizures"],"prefix":"10.1002","volume":"38","author":[{"given":"Anjana L.","family":"Pettigrew","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laird G.","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David H.","family":"Ledbetter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"226","volume-title":"Neurology of Hereditary Metabolic Diseases of Children","author":"Adams RD","year":"1982"},{"key":"e_1_2_1_3_1","first-page":"325","article-title":"Some examples of the inheritance of mental deficiency: Apparently sex\u2010linked idiocy and microcephaly","volume":"48","author":"Allan W","year":"1944","journal-title":"Am J Ment Defic"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300150"},{"key":"e_1_2_1_5_1","first-page":"13","article-title":"Sex\u2010linked spastic paraplegia","volume":"71","author":"Baar HS","year":"1966","journal-title":"Am J Ment Defic"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1977.tb07968.x"},{"key":"e_1_2_1_7_1","first-page":"75A","article-title":"A new X\u2010linked recessive mental retardation syndrome with progressive spastic quadriparesis. [abstract]","volume":"33","author":"Davis JG","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1111\/j.1469-8749.1972.tb02604.x","article-title":"The Aicardi syndrome","volume":"14","author":"Dennis J","year":"1972","journal-title":"Dev Med Child Neurol"},{"key":"e_1_2_1_9_1","first-page":"827","article-title":"Mental retardation as a sex\u2010linked defect","volume":"67","author":"Dunn HG","year":"1963","journal-title":"Am J Ment Defic"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00842.x"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.22.8.771"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070407"},{"key":"e_1_2_1_13_1","first-page":"1","article-title":"Familial non\u2010congenital microcephaly, peculiar appearance, mental and motor retardation, progressive evolution to spasticity and choreo\u2010athetosis","volume":"23","author":"Hooft C","year":"1968","journal-title":"Helv Paediatr Act"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210409"},{"key":"e_1_2_1_15_1","series-title":"Birth Defects Orig Artic Ser X(1)","volume-title":"X\u2010linked mental retardation and verbal disability","author":"Lehrke RG","year":"1974"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004728-198505000-00014"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.8.4.261"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00401.x"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1979.51.6.0862"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170103"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1148\/127.2.453"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(83)80008-4"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb04143.x"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00276602"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170125"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300151"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300152"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1978.03910050153010"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.50.9.1230"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320380206","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320380206","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,26]],"date-time":"2024-01-26T16:33:25Z","timestamp":1706286805000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320380206"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,2]]},"references-count":28,"journal-issue":{"issue":"2-3","published-print":{"date-parts":[[1991,2]]}},"alternative-id":["10.1002\/ajmg.1320380206"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320380206","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,2]]}}}