{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T08:11:51Z","timestamp":1791101511709,"version":"4.1.0"},"reference-count":6,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,2,3]],"date-time":"2012-02-03T00:00:00Z","timestamp":1328227200000},"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":[[2013,1]]},"abstract":"<jats:p><jats:bold>Abstract:\u2003<\/jats:bold> Congenital anonychia is an inherited autosomal recessive disorder characterized by complete absence of fingernails or toenails, or both. In the present study, we have described a consanguineous Pakistani family having a family member affected with congenital anonychia. Genotyping using polymorphic microsatellite markers showed linkage of the family to gene <jats:italic>RSPO4<\/jats:italic> encoding R\u2010spondin and mapped on human chromosome 20p13. Deoxyribonucleic acid sequence analysis of the gene identified a novel nonsense mutation (c.18C&gt;A; p.Cys6X) in the affected family member.<\/jats:p>","DOI":"10.1111\/j.1525-1470.2011.01587.x","type":"journal-article","created":{"date-parts":[[2012,2,3]],"date-time":"2012-02-03T10:10:54Z","timestamp":1328263854000},"page":"139-141","source":"Crossref","is-referenced-by-count":11,"title":["A Novel Nonsense Mutation in <i>RSPO4<\/i> Gene Underlies Autosomal Recessive Congenital Anonychia in a Pakistani Family"],"prefix":"10.1111","volume":"30","author":[{"given":"Naveed","family":"Wasif","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wasim","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,2,3]]},"reference":[{"key":"e_1_2_3_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1883"},{"key":"e_1_2_3_3_2","doi-asserted-by":"publisher","DOI":"10.4161\/cc.5.1.2305"},{"key":"e_1_2_3_4_2","first-page":"257","article-title":"Mouse cristin\/R\u2010spondin family proteins are novel ligands for the Frizzled 8 and LRP6 receptors and activate beta\u2010catenin\u2010dependent gene expression","volume":"13","author":"Nam JS","year":"2006","journal-title":"J Biol Chem"},{"key":"e_1_2_3_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2004.07.019"},{"key":"e_1_2_3_6_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M701927200"},{"key":"e_1_2_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80542-5"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1525-1470.2011.01587.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1525-1470.2011.01587.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T20:32:01Z","timestamp":1698697921000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1525-1470.2011.01587.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,2,3]]},"references-count":6,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,1]]}},"alternative-id":["10.1111\/j.1525-1470.2011.01587.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1525-1470.2011.01587.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":[[2012,2,3]]}}}