{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T02:45:39Z","timestamp":1776048339691,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T00:00:00Z","timestamp":1773100800000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Nail\u2010patella syndrome (NPS) is an autosomal dominant genetic condition characterised by dysplastic nails, skeletal deformities and potential kidney involvement. It is caused by mutations in the LMX1B gene. In this case, we report a proband and her son, both affected by NPS. The proband presented with kidney failure and exhibited classical NPS deformities that had gone undiagnosed previously. As her son also had similar skeletal deformities, genetic testing for NPS was done, which revealed a novel missense genetic defect in the LMX1B gene. Interestingly, neither the parents nor siblings of the proband showed symptoms of NPS, and genetic analysis of the parents did not show the same genetic variant, thus implying a de novo genetic defect in the proband. This case highlights the importance of genetic testing and early detection in diagnosing and managing NPS.<\/jats:p>","DOI":"10.1111\/nep.70185","type":"journal-article","created":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T00:24:26Z","timestamp":1773188666000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Nail Patella Syndrome Diagnosed in a Proband With Renal Failure Through Skeletal and Nail Deformities in Her Offspring: A Case Report of a Novel De Novo Genetic Defect in the\n                    <scp>LMX1B<\/scp>\n                    Gene"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6098-4203","authenticated-orcid":false,"given":"Shalini","family":"Sinha","sequence":"first","affiliation":[{"name":"Department of Nephrology Indira Gandhi Institute of Medical Sciences  Patna Bihar India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4600-1693","authenticated-orcid":false,"given":"Prit Pal","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Nephrology Indira Gandhi Institute of Medical Sciences  Patna Bihar India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9838-6102","authenticated-orcid":false,"given":"Amresh","family":"Krishna","sequence":"additional","affiliation":[{"name":"Department of Nephrology All India Institute of Medical Sciences  Patna Bihar India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Om","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Nephrology Indira Gandhi Institute of Medical Sciences  Patna Bihar India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dipanjana","family":"Datta","sequence":"additional","affiliation":[{"name":"Organization of Rare Disease India  Bangalore Karnataka India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,3,10]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467\u2010002\u20100911\u20105"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467\u2010008\u20100836\u20108"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.3.1535"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2013020171"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525\u20101470.2009.01051.x"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.4314\/pamj.v9i1.71207"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/ckj\/sft035"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23626"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010020\u20102308\u20107"},{"issue":"5","key":"e_1_2_10_11_1","first-page":"375","article-title":"Refining ACMG\/AMP Variant Interpretation Guidelines Through ClinGen Expert Specifications","volume":"44","author":"Abou Tayoun A. N.","year":"2023","journal-title":"Human Mutation"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24088"},{"issue":"9","key":"e_1_2_10_13_1","first-page":"1234","article-title":"Calibration and Refinement of ACMG\/AMP Criteria for Variant Classification With BayesQuantify","volume":"62","author":"Liu S.","year":"2025","journal-title":"Journal of Medical Genetics"},{"key":"e_1_2_10_14_1","unstructured":"ClinGen SVI Working Group \u201cUpdated Decision Trees and Allele Frequency Calculator Tools \u201d2023\u20132025 https:\/\/clinicalgenome.org\/working\u2010groups\/sequence\u2010variant\u2010interpretation."},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000185147"}],"container-title":["Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.70185","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/nep.70185","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.70185","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T02:08:55Z","timestamp":1776046135000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nep.70185"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1111\/nep.70185"],"URL":"https:\/\/doi.org\/10.1111\/nep.70185","archive":["Portico"],"relation":{},"ISSN":["1320-5358","1440-1797"],"issn-type":[{"value":"1320-5358","type":"print"},{"value":"1440-1797","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3]]},"assertion":[{"value":"2025-01-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-24","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-10","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70185"}}