{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T13:39:58Z","timestamp":1787060398310,"version":"build-2736575974"},"reference-count":24,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2017,10,1]],"date-time":"2017-10-01T00:00:00Z","timestamp":1506816000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100003970","name":"Isfahan University of Medical Sciences","doi-asserted-by":"publisher","award":["195122"],"award-info":[{"award-number":["195122"]}],"id":[{"id":"10.13039\/501100003970","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Ahvaz Noor Genetics Lab"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","jdsjournal.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Dermatological Science"],"published-print":{"date-parts":[[2017,10]]},"DOI":"10.1016\/j.jdermsci.2017.04.017","type":"journal-article","created":{"date-parts":[[2017,5,13]],"date-time":"2017-05-13T12:30:41Z","timestamp":1494678641000},"page":"134-138","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a large Iranian kindred"],"prefix":"10.1016","volume":"88","author":[{"given":"Javad","family":"Mohammadi-asl","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Reza","family":"Pourreza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aliasgar","family":"Mohammadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ameneh","family":"Eskandari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sima","family":"Mozafar-Jalali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Amin","family":"Tabatabaiefar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jdermsci.2017.04.017_bib0005","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.jdermsci.2017.04.017_bib0010","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1111\/j.1365-2133.2005.06509.x","article-title":"Congenital brachydactyly and nail hypoplasia: clue to bone-dependent nail formation","volume":"152","author":"Seitz","year":"2005","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.jdermsci.2017.04.017_bib0015","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1111\/bjd.14148","article-title":"Nails \u2013 more than just an ectodermal appendage: the genetics behind isolated nail disorders","volume":"173","author":"Betz","year":"2015","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.jdermsci.2017.04.017_bib0020","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1002\/jcp.21491","article-title":"Role of homeobox genes in the patterning, specification, and differentiation of ectodermal appendages in mammals","volume":"216","author":"Duverger","year":"2008","journal-title":"J. Cell. Physiol."},{"key":"10.1016\/j.jdermsci.2017.04.017_bib0025","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.jdermsci.2017.04.017_bib0030","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1016\/j.ajhg.2011.05.013","article-title":"Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia","volume":"88","author":"Frojmark","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jdermsci.2017.04.017_bib0035","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/1755-8794-5-17","article-title":"Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform","volume":"5","author":"De Keulenaer","year":"2012","journal-title":"BMC Med. Genomics"},{"key":"10.1016\/j.jdermsci.2017.04.017_bib0040","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1080\/03014460310001652211","article-title":"Consanguineous marriage in Iran","volume":"31","author":"Saadat","year":"2004","journal-title":"Ann. Hum. Biol."},{"key":"10.1016\/j.jdermsci.2017.04.017_bib0045","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1002\/humu.22981","article-title":"HGVS Recommendations for the Description of Sequence Variants: 2016 Update","volume":"37","author":"den Dunnen","year":"2016","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jdermsci.2017.04.017_bib0050","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.jdermsci.2017.04.017_bib0055","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat. Methods"},{"key":"10.1016\/j.jdermsci.2017.04.017_bib0060","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1093\/bioinformatics\/btv195","article-title":"PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels","volume":"31","author":"Choi","year":"2015","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jdermsci.2017.04.017_bib0065","doi-asserted-by":"crossref","first-page":"R9","DOI":"10.1186\/gb-2012-13-2-r9","article-title":"Predicting the effects of frameshifting indels","volume":"13","author":"Hu","year":"2012","journal-title":"Genome Biol."},{"key":"10.1016\/j.jdermsci.2017.04.017_bib0070","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1038\/nprot.2010.5","article-title":"I-TASSER: a unified platform for automated protein structure and function prediction","volume":"5","author":"Roy","year":"2010","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.jdermsci.2017.04.017_bib0075","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1016\/j.ajhg.2011.05.014","article-title":"Hereditary leukonychia or porcelain nails, resulting from mutations in PLCD1","volume":"88","author":"Kiuru","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jdermsci.2017.04.017_bib0080","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1038\/nm.3074","article-title":"WNT signaling in bone homeostasis and disease: from human mutations to treatments","volume":"19","author":"Baron","year":"2013","journal-title":"Nat. Med."},{"key":"10.1016\/j.jdermsci.2017.04.017_bib0085","doi-asserted-by":"crossref","first-page":"9277","DOI":"10.1073\/pnas.0402802101","article-title":"Frizzled6 controls hair patterning in mice","volume":"101","author":"Guo","year":"2004","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.jdermsci.2017.04.017_bib0090","doi-asserted-by":"crossref","first-page":"2147","DOI":"10.1523\/JNEUROSCI.4698-05.2005","article-title":"The role of Frizzled3 and Frizzled6 in neural tube closure and in the planar polarity of inner-ear sensory hair cells","volume":"26","author":"Wang","year":"2006","journal-title":"J. Neurosci."},{"key":"10.1016\/j.jdermsci.2017.04.017_bib0095","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1111\/j.1365-2133.2011.10800.x","article-title":"FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia","volume":"166","author":"Naz","year":"2012","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.jdermsci.2017.04.017_bib0100","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1111\/j.1365-2133.2012.11203.x","article-title":"A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia","volume":"168","author":"Raza","year":"2013","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.jdermsci.2017.04.017_bib0105","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.jdermsci.2012.12.005","article-title":"Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy\u2013expanding the differential diagnosis for pachyonychia congenita","volume":"70","author":"Wilson","year":"2013","journal-title":"J. Dermatol. Sci."},{"key":"10.1016\/j.jdermsci.2017.04.017_bib0110","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1002\/mgg3.155","article-title":"Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American family","volume":"3","author":"Cvjetkovic","year":"2015","journal-title":"Mol. Genetics Genomic Med."},{"key":"10.1016\/j.jdermsci.2017.04.017_bib0115","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1002\/humu.21643","article-title":"FZD6 is a novel gene for human neural tube defects","volume":"33","author":"De Marco","year":"2012","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jdermsci.2017.04.017_bib0120","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1111\/ced.12934","article-title":"Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature","volume":"41","author":"Kasparis","year":"2016","journal-title":"Clin. Exp. Dermatol."}],"container-title":["Journal of Dermatological Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181117300841?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181117300841?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,1]],"date-time":"2018-09-01T17:55:52Z","timestamp":1535824552000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0923181117300841"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,10]]}},"alternative-id":["S0923181117300841"],"URL":"https:\/\/doi.org\/10.1016\/j.jdermsci.2017.04.017","relation":{},"ISSN":["0923-1811"],"issn-type":[{"value":"0923-1811","type":"print"}],"subject":[],"published":{"date-parts":[[2017,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a large Iranian kindred","name":"articletitle","label":"Article Title"},{"value":"Journal of Dermatological Science","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jdermsci.2017.04.017","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}