{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,8]],"date-time":"2025-05-08T13:50:39Z","timestamp":1746712239049,"version":"3.40.5"},"reference-count":13,"publisher":"American Academy of Pediatrics (AAP)","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,7,1]]},"DOI":"10.1542\/pir.2018-0100","type":"journal-article","created":{"date-parts":[[2020,7,1]],"date-time":"2020-07-01T13:24:42Z","timestamp":1593609882000},"page":"e26-e30","source":"Crossref","is-referenced-by-count":0,"title":["Visual Diagnosis: Dysplastic Nails and Elbows in a 15-year-old Boy"],"prefix":"10.1542","volume":"41","author":[{"given":"Mojgan","family":"Hosseinipour","sequence":"first","affiliation":[{"name":"Department of Dermatology, St Barnabas Hospital, Bronx, NY"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gretchen","family":"Inkumsah","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Campbell University School of Osteopathic Medicine, Lillington, NC"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2020,7,1]]},"reference":[{"issue":"1","key":"2021120909283080600_B8","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1038\/ejhg.2015.77","article-title":"Nail-patella syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity","volume":"24","author":"Ghoumid","year":"2016","journal-title":"Eur J Hum Genet"},{"key":"2021120909283080600_B9","doi-asserted-by":"crossref","first-page":"S82","DOI":"10.3346\/jkms.2009.24.S1.S82","article-title":"Clinico-genetic study of nail-patella syndrome","volume":"24","author":"Lee","year":"2009","journal-title":"J Korean Med Sci"},{"issue":"4","key":"2021120909283080600_B10","doi-asserted-by":"crossref","first-page":"1961","DOI":"10.1210\/jc.2004-0997","article-title":"Skeletal integrity in patients with nail patella syndrome","volume":"90","author":"Towers","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"2021120909283080600_B11","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1136\/jmg.40.3.153","article-title":"Nail patella syndrome: a review of the phenotype aided by developmental biology","volume":"40","author":"Sweeney","year":"2003","journal-title":"J Med Genet"},{"issue":"7","key":"2021120909283080600_B12","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1097\/GIM.0b013e3181e21afa","article-title":"A spectrum of LMX1B mutations in nail-patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents","volume":"12","author":"Marini","year":"2010","journal-title":"Genet Med"},{"key":"2021120909283080600_B13","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1051\/sicotj\/2016017","article-title":"Nail-patella-syndrome in a young patient followed up over 10 years: relevance of the sagittal trochlear septum for patellofemoral pathology","volume":"2","author":"Konrads","year":"2016","journal-title":"SICOT J"},{"issue":"2","key":"2021120909283080600_B1","doi-asserted-by":"crossref","first-page":"179","DOI":"10.4103\/0022-3859.132335","article-title":"A rare case of nephrotic syndrome: \u2018nailed\u2019 the diagnosis","volume":"60","author":"Agrawal","year":"2014","journal-title":"J Postgrad Med"},{"issue":"3","key":"2021120909283080600_B2","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/j.ygeno.2004.06.002","article-title":"The human LMX1B gene: transcription unit, promoter, and pathogenic mutations","volume":"84","author":"Dunston","year":"2004","journal-title":"Genomics"},{"issue":"6","key":"2021120909283080600_B3","doi-asserted-by":"crossref","first-page":"2361","DOI":"10.3892\/etm.2016.3180","article-title":"Treatment of patellar instability in a case of hereditary onycho-osteodysplasia (nail-patella syndrome) with medial patellofemoral ligament reconstruction: a case report","volume":"11","author":"Gong","year":"2016","journal-title":"Exp Ther Med"},{"issue":"6","key":"2021120909283080600_B4","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.otsr.2013.03.031","article-title":"Correction of malformative patella instability in patients with nail-patella syndrome: a case report and review of literature","volume":"99","author":"Lippacher","year":"2013","journal-title":"Orthop Traumatol Surg Res"},{"article-title":"Nail-patella syndrome","volume-title":"GeneReviews [Internet]","author":"Sweeney","key":"2021120909283080600_B5"},{"key":"2021120909283080600_B6","first-page":"721","article-title":"Nail patella syndrome","volume-title":"NORD Guide to Rare Disorders","author":"Sweeny","year":"2002"},{"key":"2021120909283080600_B7","first-page":"483","article-title":"Radiological characteristics of the knee joint in nail patella syndrome","volume-title":"Bone Joint J","author":"Tigchelaar","year":"2016"}],"container-title":["Pediatrics In Review"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatricsinreview\/article-pdf\/41\/7\/e26\/827875\/pedsinreview_20180100.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatricsinreview\/article-pdf\/41\/7\/e26\/827875\/pedsinreview_20180100.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,21]],"date-time":"2021-12-21T14:21:22Z","timestamp":1640096482000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatricsinreview\/article\/41\/7\/e26\/35440\/Visual-Diagnosis-Dysplastic-Nails-and-Elbows-in-a"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,1]]},"references-count":13,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2020,7,1]]},"published-print":{"date-parts":[[2020,7,1]]}},"URL":"https:\/\/doi.org\/10.1542\/pir.2018-0100","relation":{},"ISSN":["0191-9601","1526-3347"],"issn-type":[{"type":"print","value":"0191-9601"},{"type":"electronic","value":"1526-3347"}],"subject":[],"published":{"date-parts":[[2020,7,1]]}}}