{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T16:52:08Z","timestamp":1771606328003,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,3,10]],"date-time":"2017-03-10T00:00:00Z","timestamp":1489104000000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pure hair and nail ectodermal dysplasia (<jats:styled-content style=\"fixed-case\">PHNED<\/jats:styled-content>) is a rare disorder that presents with hypotrichosis and nail dystrophy while sparing other ectodermal structures such as teeth and sweat glands. We describe a homozygous novel missense mutation in the <jats:italic><jats:styled-content style=\"fixed-case\">HOXC<\/jats:styled-content>13<\/jats:italic> gene that resulted in autosomal recessive <jats:styled-content style=\"fixed-case\">PHNED<\/jats:styled-content> in a Hispanic child. The mutation c.812A&gt;G (p.Gln271Arg) is located within the <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\u2010binding domain of the <jats:italic><jats:styled-content style=\"fixed-case\">HOXC<\/jats:styled-content>13<\/jats:italic> gene, cosegregates within the family, and is predicted to be maximally damaging. This is the first reported case of a missense <jats:italic><jats:styled-content style=\"fixed-case\">HOXC<\/jats:styled-content>13<\/jats:italic> mutation resulting in <jats:styled-content style=\"fixed-case\">PHNED<\/jats:styled-content> and the first reported case of <jats:styled-content style=\"fixed-case\">PHNED<\/jats:styled-content> identified in a North American family. Our findings illustrate the critical role of <jats:italic><jats:styled-content style=\"fixed-case\">HOXC<\/jats:styled-content>13<\/jats:italic> in human hair and nail development.<\/jats:p>","DOI":"10.1111\/pde.13074","type":"journal-article","created":{"date-parts":[[2017,3,10]],"date-time":"2017-03-10T14:24:49Z","timestamp":1489155889000},"page":"172-175","source":"Crossref","is-referenced-by-count":9,"title":["A Novel Homozygous Missense Mutation in <i><scp>HOXC<\/scp>13<\/i> Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia"],"prefix":"10.1111","volume":"34","author":[{"given":"Xiaoxiao","family":"Li","sequence":"first","affiliation":[{"name":"Department of Dermatology University of Texas Southwestern Medical Center Dallas Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meredith Lee","family":"Orseth","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Texas Southwestern Medical Center Dallas Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. Michael","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Texas Southwestern Medical Center Dallas Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary Abigail","family":"Brehm","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Texas Southwestern Medical Center Dallas Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nnenna Gebechi","family":"Agim","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Texas Southwestern Medical Center Dallas Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"II","given":"Donald Alexander","family":"Glass","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Texas Southwestern Medical Center Dallas Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,3,10]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32864"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.08.029"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971003)72:1<91::AID-AJMG19>3.0.CO;2-P"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.033381"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2009.341"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2004.23594.x"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2007.02413.x"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2006.07509.x"},{"key":"e_1_2_3_10_1","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1684\/ejd.2010.0962","article-title":"Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1\u2010q14.3 without KRTHB5 gene mutation","volume":"20","author":"Rasool M","year":"2010","journal-title":"Eur J Dermatol"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M103305200"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2004.06108.x"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2010.391"},{"key":"e_1_2_3_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M101616200"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22271"},{"key":"e_1_2_3_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12302"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.13074","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.13074","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T21:30:23Z","timestamp":1696023023000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.13074"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["10.1111\/pde.13074"],"URL":"https:\/\/doi.org\/10.1111\/pde.13074","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3]]}}}