{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T21:43:14Z","timestamp":1698010994148},"reference-count":46,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2008,3,20]],"date-time":"2008-03-20T00:00:00Z","timestamp":1205971200000},"content-version":"vor","delay-in-days":6867,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[1989,6]]},"abstract":"<jats:p><jats:bold>Abstract: <\/jats:bold> Hypohidrotic ectodermal dysplasia (HED) is a welldescribed, X\u2010linked recessive disorder characterized by hypohidrosis, hypodontia, and hypotrichosis in males. Reports of similarly affected females have suggested autosomal recessive inheritance in some families. The evidence for two clinically identical but genetically distinct disorders is not convincing, however. In two families with X\u2010linked recessive inheritance of HED, the condition was severe in females. A critical review of previously reported cases of presumed autosomal recessive HED suggests that an autosomal recessive form of the condition identical to the X\u2010linked HED may not exist. All sporadic instances of females with classic HED should be considered to be X\u2010linked recessive, and counseling for X\u2010linked recessive inheritance as well as autosomal recessive inheritance should be given.<\/jats:p>","DOI":"10.1111\/j.1525-1470.1989.tb01002.x","type":"journal-article","created":{"date-parts":[[2008,3,20]],"date-time":"2008-03-20T11:10:58Z","timestamp":1206011458000},"page":"76-81","source":"Crossref","is-referenced-by-count":9,"title":["Hypohidrotic Ectodermal Dysplasia: Argument Against an Autosomal Recessive Form Clinically Indistinguishable from X\u2010Linked Hypohidrotic Ectodermal Dysplasia (Christ\u2010Siemens\u2010Touraine Syndrome)"],"prefix":"10.1111","volume":"6","author":[{"given":"Virginia P.","family":"Sybert","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,3,20]]},"reference":[{"key":"e_1_2_1_2_2","volume-title":"Mendelian inheritance in man. Catalogs of autosomal dominant, autosomal recessive and X\u2010linked phenotypes","author":"McKusick VA.","year":"1988"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291298"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00440560"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(72)90441-0"},{"key":"e_1_2_1_6_2","first-page":"95","article-title":"Autosomal recessive hypohidrotic ectodermal dysplasia with subclinical manifestation in the heterozygote","volume":"13","author":"Passarge E","year":"1977","journal-title":"Birth Defects"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(71)80229-9"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-8177(52)42009-7"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1952.tb17026.x"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(54)80264-2"},{"key":"e_1_2_1_11_2","first-page":"203","article-title":"La polydysplasia ectodermica anhidrotica\u2010ipotricota\u2010anodontica de Christ\u2010Siemens\u2010Weech","volume":"4","author":"Vichi F","year":"1955","journal-title":"Ann Stomat (Roma)"},{"key":"e_1_2_1_12_2","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1093\/oxfordjournals.jhered.a106006","article-title":"Anodontia in hereditary ectodermal dysplasia","volume":"40","author":"McDonald RE.","year":"1949","journal-title":"J Hered"},{"key":"e_1_2_1_13_2","first-page":"193","article-title":"Demonstration zweier kinder mit anhidrosis hypotrichotica cum anodontia","volume":"99","author":"Weber G.","year":"1951","journal-title":"Monatsschr Kinderheilkd"},{"key":"e_1_2_1_14_2","first-page":"459","article-title":"Hereditary ectodermal dysplasia with report of three cases of the anhidrotic variety","volume":"21","author":"Lipscomb LL","year":"1952","journal-title":"J Indian Med Assoc"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1962.tb13909.x"},{"key":"e_1_2_1_16_2","first-page":"583","article-title":"A case of anodontia","volume":"66","author":"Cemy C.","year":"1924","journal-title":"Dent Cosmos"},{"key":"e_1_2_1_17_2","first-page":"1407","article-title":"Congenital ectodermal defect","volume":"23","author":"Cove\u2010Smith R.","year":"1930","journal-title":"Proc R Soc Med"},{"key":"e_1_2_1_18_2","first-page":"233","article-title":"Anodontia in a child: report of a case","volume":"39","author":"Loving HE.","year":"1949","journal-title":"J Am Dent Assoc"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1177\/000992286500400704"},{"key":"e_1_2_1_20_2","first-page":"555","article-title":"The total absence of teeth","volume":"72","author":"Elfenbaum A.","year":"1966","journal-title":"Dental Digest"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-5-3-358"},{"key":"e_1_2_1_22_2","first-page":"1051","article-title":"A propos de sept observations de dysplasia ectodermique. Chez des sujets de sexe feminin dont six dans la meme famille discussion genetique","volume":"20","author":"Bernard R","year":"1963","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1920.02350040033004"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1929.01930040075005"},{"key":"e_1_2_1_25_2","first-page":"69","article-title":"Familial ectodermal defect","volume":"31","author":"Brain RT.","year":"1937","journal-title":"Proc R Soc Med"},{"key":"e_1_2_1_26_2","first-page":"512","article-title":"Anhidrotic ectodermal dysplasia. Clinical case report","volume":"25","author":"Minicuci P.","year":"1973","journal-title":"Minerva Pediatr"},{"key":"e_1_2_1_27_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02799196"},{"key":"e_1_2_1_28_2","first-page":"495","article-title":"Anhidrotic ectodermal dysplasia with ventricular septal defect","volume":"14","author":"Rayadu GB.","year":"1977","journal-title":"Indian J Pediatr"},{"key":"e_1_2_1_29_2","first-page":"121","article-title":"Hypodontia with ectodermal dysplasia","volume":"79","author":"Srivastava RP.","year":"1982","journal-title":"J Indian Med Assoc"},{"key":"e_1_2_1_30_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-662-02489-8"},{"key":"e_1_2_1_31_2","first-page":"1","article-title":"Congenital ectodermal dysplasia of anhidrotic type","volume":"22","author":"Kaalund\u2010Jorgenson O","year":"1941","journal-title":"Acta Dermatol Venereol"},{"key":"e_1_2_1_32_2","doi-asserted-by":"publisher","DOI":"10.14219\/jada.archive.1948.0136"},{"key":"e_1_2_1_33_2","volume-title":"Methodology in medical genetics","author":"Emery AEH.","year":"1976"},{"key":"e_1_2_1_34_2","first-page":"911","article-title":"Displasia ectodermica anidrotica nel sesso femminile","volume":"33","author":"Bezzi TM","year":"1982","journal-title":"Minerva Pediatr"},{"key":"e_1_2_1_35_2","first-page":"911","article-title":"Displasia ectodermica ipodrotica (DEA) nel sesso femminile","volume":"33","author":"Bonora G","year":"1982","journal-title":"Minerva Pediatr"},{"key":"e_1_2_1_36_2","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1969.02100030599020"},{"key":"e_1_2_1_37_2","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1093\/oxfordjournals.jhered.a104213","article-title":"Two independent inherited tooth anomalies in one family","volume":"27","author":"Gruneberg H.","year":"1936","journal-title":"J Hered"},{"key":"e_1_2_1_38_2","first-page":"5","article-title":"Absent canines","volume":"46","author":"Dolamore WH.","year":"1925","journal-title":"Br Dent J"},{"key":"e_1_2_1_39_2","first-page":"672","article-title":"Carrier detection in Christ\u2010Siemens\u2010Touraine syndrome (X\u2010linked hypohidrotic ectodermal dysplasia)","volume":"34","author":"Freire\u2010Mara N","year":"1982","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_40_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00373.x"},{"key":"e_1_2_1_41_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196202012660502"},{"key":"e_1_2_1_42_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb01799.x"},{"key":"e_1_2_1_43_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb00680.x"},{"key":"e_1_2_1_44_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00233.x"},{"key":"e_1_2_1_45_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282550"},{"key":"e_1_2_1_46_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1969.tb01642.x"},{"key":"e_1_2_1_47_2","first-page":"75","article-title":"X\u2010linked hypohidrotic ectodermal dysplasia: localization within the region Xq11\u201021.1 by linkage analysis and implications for carrier detection and prenatal diagnosis","volume":"43","author":"Zonana J","year":"1988","journal-title":"Am J Hum Genet"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1525-1470.1989.tb01002.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1525-1470.1989.tb01002.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T02:56:52Z","timestamp":1697943412000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1525-1470.1989.tb01002.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,6]]},"references-count":46,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1989,6]]}},"alternative-id":["10.1111\/j.1525-1470.1989.tb01002.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1525-1470.1989.tb01002.x","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,6]]}}}