{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T11:42:54Z","timestamp":1747222974612},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,6,11]],"date-time":"2014-06-11T00:00:00Z","timestamp":1402444800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Conradi\u2013H\u00fcnermann\u2013Happle syndrome (X\u2010linked dominant chondrodysplasia punctata, <jats:styled-content style=\"fixed-case\">CDPX<\/jats:styled-content>2 [Online Mendelian Inheritance in Man 302960]) is a rare genodermatosis that presents with blaschkolinear ichthyosis, cicatricial alopecia, chondrodysplasia punctata, asymmetric shortening of the bones, and cataracts. In this case report we describe a child presenting with a patterned alopecia in which supplementary signs and clinical examination of the mother led to the suspicion of Conradi\u2010H\u00fcnermann\u2010Happle syndrome. Mutation analysis revealed a heterozygous novel missense mutation, c.204G&gt;T (p.W68C), in exon 2.<\/jats:p>","DOI":"10.1111\/pde.12336","type":"journal-article","created":{"date-parts":[[2014,6,11]],"date-time":"2014-06-11T07:56:25Z","timestamp":1402473385000},"page":"493-496","source":"Crossref","is-referenced-by-count":7,"title":["<scp>C<\/scp>onradi\u2013<scp>H<\/scp>\u00fcnermann\u2013<scp>H<\/scp>apple Syndrome: A Novel Heterozygous Missense Mutation, c.204<scp>G<\/scp>&gt;<scp>T<\/scp> (p.<scp>W<\/scp>68<scp>C<\/scp>)"],"prefix":"10.1111","volume":"31","author":[{"given":"Charlotte","family":"Lambrecht","sequence":"first","affiliation":[{"name":"Department of Dermatology University Hospitals Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carine","family":"Wouters","sequence":"additional","affiliation":[{"name":"Department of Pediatric Rheumatology University Hospitals Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilde","family":"Van Esch","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedics University Hospitals Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Moens","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology University Hospitals Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingele","family":"Casteels","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospitals Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Anne","family":"Morren","sequence":"additional","affiliation":[{"name":"Department of Dermatology University Hospitals Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,6,11]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2011.10756.x"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2012.10808.x"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001002)94:4<300::AID-AJMG7>3.0.CO;2-3"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2012.01593.x"},{"key":"e_1_2_4_6_1","first-page":"425","article-title":"The Conradi\u2010H\u00fcnermann\u2010Happle syndrome is caused by mutations in the gene that encodes a \u03948\u2010\u03947 sterol isomerase and is biochemically related to the CHILD syndrome","volume":"10","author":"Traupe H","year":"2000","journal-title":"Eur J Dermatol"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(83)90915-7"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33674"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archdermatol.2011.230"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570326"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10852"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2002.01761.x"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1439-0353.2004.04044.x"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.12336","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.12336","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T13:57:10Z","timestamp":1695477430000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.12336"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6,11]]},"references-count":12,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,7]]}},"alternative-id":["10.1111\/pde.12336"],"URL":"https:\/\/doi.org\/10.1111\/pde.12336","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,6,11]]}}}