{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T13:56:51Z","timestamp":1777643811268,"version":"3.51.4"},"reference-count":12,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2017,5,1]],"date-time":"2017-05-01T00:00:00Z","timestamp":1493596800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,5,1]],"date-time":"2018-05-01T00:00:00Z","timestamp":1525132800000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["jidonline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Dermatology"],"published-print":{"date-parts":[[2017,5]]},"DOI":"10.1016\/j.jid.2016.12.015","type":"journal-article","created":{"date-parts":[[2017,1,10]],"date-time":"2017-01-10T09:45:50Z","timestamp":1484041550000},"page":"1176-1179","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":24,"title":["Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3"],"prefix":"10.1016","volume":"137","author":[{"given":"Chao-Kai","family":"Hsu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Teresa","family":"Romano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arti","family":"Nanda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ellie","family":"Rashidghamat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John Y.W.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hsin-Yu","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chankiat","family":"Songsantiphap","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia Yu-Yun","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hejab","family":"Al-Ajmi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regina C.","family":"Betz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael A.","family":"Simpson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John A.","family":"McGrath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christos","family":"Tziotzios","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jid.2016.12.015_bib1","doi-asserted-by":"crossref","first-page":"1292","DOI":"10.1016\/j.ajhg.2016.10.004","article-title":"Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome","volume":"99","author":"Basmanav","year":"2016","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jid.2016.12.015_bib2","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1086\/509789","article-title":"Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia","volume":"79","author":"Bergmann","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jid.2016.12.015_bib3","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1038\/ng1883","article-title":"The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia","volume":"38","author":"Blaydon","year":"2006","journal-title":"Nat Genet"},{"key":"10.1016\/j.jid.2016.12.015_bib4","doi-asserted-by":"crossref","first-page":"2472","DOI":"10.1002\/ajmg.a.36550","article-title":"Etiology and pathogenesis of ectodermal dysplasias","volume":"164A","author":"Itin","year":"2014","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jid.2016.12.015_bib5","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1111\/bjd.14023","article-title":"Genetics of human isolated hereditary nail disorders","volume":"173","author":"Khan","year":"2015","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jid.2016.12.015_bib6","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1016\/j.ajhg.2012.08.029","article-title":"Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia","volume":"91","author":"Lin","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jid.2016.12.015_bib7","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1111\/j.0022-202X.2005.23763.x","article-title":"Peptidylarginine deiminase isoforms are differentially expressed in the anagen hair follicles and other human skin appendages","volume":"125","author":"Nachat","year":"2005","journal-title":"J\u00a0Invest Dermatol"},{"key":"10.1016\/j.jid.2016.12.015_bib8","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1016\/j.ajhg.2014.08.001","article-title":"Mutations in GRHL2 result in an autosomal-recessive ectodermal dysplasia syndrome","volume":"95","author":"Petrof","year":"2014","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jid.2016.12.015_bib9","doi-asserted-by":"crossref","first-page":"e93607","DOI":"10.1371\/journal.pone.0093607","article-title":"Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair\/hypotrichosis","volume":"9","author":"Raykova","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.jid.2016.12.015_bib10","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1007\/978-1-4684-3282-4_17","article-title":"The enzymic derivation of citrulline residues from arginine residues in situ during the biosynthesis of hair proteins that are cross-linked by isopeptide bonds","volume":"86A","author":"Rogers","year":"1977","journal-title":"Adv Exp Med Biol"},{"key":"10.1016\/j.jid.2016.12.015_bib11","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/j.1346-8138.2011.01395.x","article-title":"Congenital hair loss disorders: rare, but not too rare","volume":"39","author":"Shimomura","year":"2012","journal-title":"J\u00a0Dermatol"},{"key":"10.1016\/j.jid.2016.12.015_bib12","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1002\/bies.10357","article-title":"PAD, a growing family of citrullinating enzymes: genes, features and involvement in disease","volume":"25","author":"Vossenaar","year":"2003","journal-title":"Bioessays"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X17300076?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X17300076?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,11,23]],"date-time":"2018-11-23T08:50:32Z","timestamp":1542963032000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X17300076"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,5]]},"references-count":12,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2017,5]]}},"alternative-id":["S0022202X17300076"],"URL":"https:\/\/doi.org\/10.1016\/j.jid.2016.12.015","relation":{},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[2017,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3","name":"articletitle","label":"Article Title"},{"value":"Journal of Investigative Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jid.2016.12.015","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 The Authors. Published by Elsevier, Inc. on behalf of the Society for Investigative Dermatology.","name":"copyright","label":"Copyright"}]}}