{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T15:45:23Z","timestamp":1759333523580},"reference-count":15,"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":3543,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,9,25]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a girl with an unusual form of ectodermal dysplasia. She was mildly mentally retarded, had normal height, weight, and head circumference, a large scalp defect, a peculiar face with large palpebral fisures, a broad nasal bridge and constantly open mouth, abnormally\u2010modeled ears, syndactyly of fingers\/toes, mild hypohidrosis, and severe onychogryposis. Her hair was short, abundant, and stiff, her eyebrows were sparse, and her skin was dry. Analysis of the literature showed that this type of association of ectodermal dysplasia and other defects has not been previously described. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320580408","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:09:00Z","timestamp":1118513340000},"page":"345-347","source":"Crossref","is-referenced-by-count":3,"title":["\u201cNew\u201d ectodermal dysplasia with mental retardation and syndactyly"],"prefix":"10.1002","volume":"58","author":[{"given":"Helena G.","family":"Ilyina","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dmitry S.","family":"Amoashy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helena A.","family":"Grygory","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4362.1973.tb00056.x"},{"key":"e_1_2_1_3_1","first-page":"96","article-title":"Hypotrichosis, syndactyly, and retinal degeneration in 2 siblings","volume":"36","author":"Albrectsen B","year":"1956","journal-title":"Acta Derm Venereol (Stockh)"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410403"},{"key":"e_1_2_1_5_1","first-page":"403","article-title":"Ectodermal dysplasias\u2014A review of the conditions described after 1984 with an overall analysis of all the conditions belonging to this nosological group","volume":"10","author":"Freire\u2010Maia N","year":"1987","journal-title":"Rev Brazil Genet"},{"key":"e_1_2_1_6_1","first-page":"102","article-title":"Ectodermal dysplasia, cutis aplasia, and facial dysmorphism in mother and daughter: a recognizable autosomal dominant syndrome","volume":"9","author":"Leichtman LG","year":"1990","journal-title":"Proc Greenwood Genet Center"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270104"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-3768.1988.tb04596.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1981.tb00768.x"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150108"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440208"},{"key":"e_1_2_1_12_1","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1542\/peds.30.5.797","article-title":"Familial ectodermal dysplasia with sensorineural deafness and other anomalies","volume":"26","author":"Robinson GC","year":"1962","journal-title":"Pediatrics"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360420"},{"key":"e_1_2_1_14_1","first-page":"243","article-title":"A case of multiple skeletal anomalies, ectodermal dysplasia, and severe growth and mental retardation","volume":"35","author":"Schinzel A","year":"1980","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130406"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290127"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320580408","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320580408","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T06:37:36Z","timestamp":1698302256000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320580408"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,9,25]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1995,9,25]]}},"alternative-id":["10.1002\/ajmg.1320580408"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320580408","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,9,25]]}}}