{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T19:55:07Z","timestamp":1787169307400,"version":"build-2736575974"},"reference-count":29,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2014,4,8]],"date-time":"2014-04-08T00:00:00Z","timestamp":1396915200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100006515","name":"Edimer Pharmaceuticals, Inc.","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100006515","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>X\u2010linked hypohidrotic ectodermal dysplasia (XLHED), the most frequent form of ectodermal dysplasia, is a genetic disorder of ectoderm development characterized by malformation of multiple ectodermal structures such as skin, hair, sweat and sebaceous glands, and teeth. The disease is caused by a broad spectrum of mutations in the gene EDA. Although XLHED symptoms show inter\u2010familial and intra\u2010familial variability, genotype\u2013phenotype correlation has been demonstrated with respect to sweat gland function. In this study, we investigated to which extent the EDA genotype correlates with the severity of XLHED\u2010related skin and hair signs. Nineteen male children with XLHED (age range 3\u201314 years) and seven controls (aged 6\u201314 years) were examined by confocal microscopy of the skin, quantification of pilocarpine\u2010induced sweating, semi\u2010quantitative evaluation of full facial photographs with respect to XLHED\u2010related skin issues, and phototrichogram analysis. All eight boys with known hypomorphic EDA mutations were able to produce at least some sweat and showed less severe cutaneous signs of XLHED than the anhidrotic XLHED patients (e.g., perioral and periorbital eczema or hyperpigmentation, regional hyperkeratosis, characteristic wrinkles under the eyes). As expected, individuals with XLHED had significantly less and thinner hair than healthy controls. However, there were also significant differences in hair number, diameter, and other hair characteristics between the group with hypomorphic EDA mutations and the anhidrotic patients. In summary, this study indicated a remarkable genotype\u2013phenotype correlation of skin and hair findings in prepubescent males with XLHED. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36541","type":"journal-article","created":{"date-parts":[[2014,4,8]],"date-time":"2014-04-08T17:51:19Z","timestamp":1396979479000},"page":"2424-2432","source":"Crossref","is-referenced-by-count":39,"title":["Genotype\u2013phenotype correlation in boys with X\u2010linked hypohidrotic ectodermal dysplasia"],"prefix":"10.1002","volume":"164","author":[{"given":"Kristin","family":"Burger","sequence":"first","affiliation":[{"name":"Department of Pediatrics German Competence Center for Children with Ectodermal Dysplasias University Hospital Erlangen University of Erlangen\u2010N\u00fcrnberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Theres","family":"Schneider","sequence":"additional","affiliation":[{"name":"Department of Pediatrics German Competence Center for Children with Ectodermal Dysplasias University Hospital Erlangen University of Erlangen\u2010N\u00fcrnberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sigrun","family":"Wohlfart","sequence":"additional","affiliation":[{"name":"Department of Pediatrics German Competence Center for Children with Ectodermal Dysplasias University Hospital Erlangen University of Erlangen\u2010N\u00fcrnberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franklin","family":"Kiesewetter","sequence":"additional","affiliation":[{"name":"Department of Dermatology University Hospital Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth","family":"Huttner","sequence":"additional","affiliation":[{"name":"Edimer Pharmaceuticals Inc. Cambridge Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramsey","family":"Johnson","sequence":"additional","affiliation":[{"name":"Edimer Pharmaceuticals Inc. Cambridge Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holm","family":"Schneider","sequence":"additional","affiliation":[{"name":"Department of Pediatrics German Competence Center for Children with Ectodermal Dysplasias University Hospital Erlangen University of Erlangen\u2010N\u00fcrnberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,4,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.earlhumdev.2010.04.008"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/521988"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1440-0960.2002.t01-1-00631.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.62.10.989"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2011.10620.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2008.318"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-013-1985-8"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.11.2079"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm355"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm861"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2013.43"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2011.01606.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30033"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35959"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0895-409"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1225"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.267997"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0002396"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32916"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10911-006-9029-x"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32855"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198710223171717"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20795"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.140.7.850"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature06250"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M101280200"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.084012"},{"key":"e_1_2_6_29_1","first-page":"263","article-title":"Psychological aspects of hypohidrotic ectodermal dysplasia","volume":"24","author":"Tanner BA","year":"1988","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31567"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36541","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36541","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36541","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T16:04:04Z","timestamp":1694707444000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36541"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,8]]},"references-count":29,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2014,10]]}},"alternative-id":["10.1002\/ajmg.a.36541"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36541","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,4,8]]}}}