{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T17:09:30Z","timestamp":1764349770582},"reference-count":11,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,9,30]],"date-time":"2004-09-30T00:00:00Z","timestamp":1096502400000},"content-version":"vor","delay-in-days":29,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2004,9]]},"abstract":"<jats:p><jats:bold>Abstract:\u2002<\/jats:bold> Hypohidrotic ectodermal dysplasia (HED) is a very rare disease characterized by the virtual absence of eccrine glands, dry skin, scanty hair, and dental abnormalities. It is transmitted by an X\u2010linked recessive gene or rarely an autosomal recessive gene. Therefore it is only males who fully express the condition. It is caused by mutations within the <jats:italic>ED1<\/jats:italic> gene, which encodes a protein, ectodysplasin\u2010A (EDA). Typically there is frontal bossing, saddle nose, pointed chin, a prominent supraorbital ridge with periorbital hyperpigmentation, and absence of teeth. Those affected show great intolerance to heat. In the current absence of effective treatment for many hereditary skin diseases, comprehensive, accurate prenatal or postnatal genetic counseling can provide information to parents at risk of having affected children. We report HED in a 6\u2010year\u2010old boy with an Ala349Thr (GCA\u00a0\u2192\u00a0ACA) missense mutation developed de novo. Both parents and a 16\u2010week gestational age fetus were healthy. We thought direct sequencing analysis for the <jats:italic>ED1<\/jats:italic> gene using peripheral blood or amniotic fluid was preferable for an accurate diagnosis of this disease, although there was some risk of not detecting the mutation. After the results of this study were communicated to the parents, the mother was freed of her guilty feelings of the past 6 years and has now delivered a healthy male infant.<\/jats:p>","DOI":"10.1111\/j.0736-8046.2004.21510.x","type":"journal-article","created":{"date-parts":[[2004,12,28]],"date-time":"2004-12-28T08:33:19Z","timestamp":1104222799000},"page":"568-572","source":"Crossref","is-referenced-by-count":13,"title":["Mutation in the <i>ED1<\/i> Gene, Ala349Thr, in a Korean Patient with X\u2010Linked Hypohidrotic Ectodermal Dysplasia Developing de novo"],"prefix":"10.1111","volume":"21","author":[{"given":"Gun Yoen","family":"Na","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Do Won","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seok Jong","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sang Lip","family":"Chung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong Jae","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jung Chul","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moon Kyu","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,9,30]]},"reference":[{"key":"e_1_2_5_2_2","first-page":":800","volume-title":"Dermatology in general medicine","author":"Goldsmith LA","year":"1990"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M101280200"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.11.1661"},{"key":"e_1_2_5_5_2","first-page":"97","article-title":"Recent advances in understanding of the molecular basis of anhidrotic ectodermal dysplasia: discovery of a ligand, ectodysplasin A and its two receptors","volume":"43","author":"Wisniewski SA","year":"2002","journal-title":"J Appl Genet"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/11943"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/11937"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1086\/513905"},{"key":"e_1_2_5_9_2","first-page":"541","article-title":"Anhidrotic ectodermal dysplasia (Christ\u2010Seimens\u2010Touraine syndrome) \u2013 case report with a review","volume":"54","author":"Ali G","year":"2000","journal-title":"Indian J Med Sci"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1086\/301984"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.136.2.217"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1225"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.0736-8046.2004.21510.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.0736-8046.2004.21510.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T22:13:09Z","timestamp":1697148789000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.0736-8046.2004.21510.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,9]]},"references-count":11,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2004,9]]}},"alternative-id":["10.1111\/j.0736-8046.2004.21510.x"],"URL":"https:\/\/doi.org\/10.1111\/j.0736-8046.2004.21510.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":[[2004,9]]}}}