{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T22:51:54Z","timestamp":1780354314879,"version":"3.54.1"},"reference-count":7,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3980,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on 2 patients with mental retardation and bullous dystrophy, macular type. The observation of the condition in a male and his maternal uncle is consistent with recessive X\u2010linkage. Due to the rarity of the condition, nosologic definition was difficult before the birth of the propositus. The clinical picture in the two patients described, characterized by mental retardation, dwarfism, microcephaly, alopecia, bullous dystrophy macular type, hypogenitalism, is very much like the one observed in the patients, all males, belonging to the only other family reported to date. The recent localization of the bullous dystrophy gene in the Xq24\u2010qter segment opens the possibility of prenatal diagnosis. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320510460","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:40:44Z","timestamp":1118497244000},"page":"598-601","source":"Crossref","is-referenced-by-count":6,"title":["X\u2010linked mental retardation, microcephaly, and growth delay associated with hereditary bullous dystrophy macular type: Report of a second family"],"prefix":"10.1002","volume":"51","author":[{"given":"M. Serena","family":"Lungarotti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Martello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giancarlo","family":"Barboni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Mezzetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giacomo","family":"Mariotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Calabro","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":"39","article-title":"Macular type of hereditary bullous dystrophy","volume":"6","author":"Carol WLL","year":"1936","journal-title":"Maandschr Kindergeneesk"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070407"},{"key":"e_1_2_1_4_1","first-page":"156","article-title":"Identification of novel RFLP's in the vicinity of CpG islands in Xq28: Application to the analysis of the pattern of X chromosome inactivation","volume":"50","author":"Maestrini E","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01843287"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_1_7_1","unstructured":"WijkerM DefescheJC PalsG BolhuisP RopersHH HulsebosTJM MenkoF ArwertF(1991):Localization of the hereditary macular type of bullous dystrophy to Xq24\u2010qter. In Epstein CJ (ed): \u201cProceedings of the 8th International Congress of Human Genetics. Washington DC 6\u201011 October 1991 (abstract 1990).\u201d"},{"key":"e_1_2_1_8_1","first-page":"111","article-title":"Dystrophia bullosa hereditaria, typus maculatus","volume":"102","author":"Woerdeman MJ","year":"1958","journal-title":"Nederl T Geneesk"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320510460","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320510460","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T19:06:32Z","timestamp":1694631992000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320510460"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,7,15]]},"references-count":7,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1994,7,15]]}},"alternative-id":["10.1002\/ajmg.1320510460"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320510460","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,7,15]]}}}