{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T17:46:02Z","timestamp":1777052762604,"version":"3.51.4"},"reference-count":0,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 5-month-old female infant from a consanguineous Indian Muslim family presented with polyuria, polydipsia, failure to thrive, impaired renal function, and neonatal hepatitis of unknown cause at 1 month of age. Clinical exome testing revealed renal\u2013hepatic\u2013pancreatic dysplasia caused by homozygous c. 1985\u2009+\u20095G\u2009&gt;\u2009A pathogenic variations in NPHP3. Our case illustrates delay in confirmatory diagnosis of such rare disorders in our region due to the lack of suspicion and unawareness of the availability of genetic testing even when there are no cost constraints.<\/jats:p>","DOI":"10.1055\/s-0039-1700802","type":"journal-article","created":{"date-parts":[[2019,11,11]],"date-time":"2019-11-11T18:58:17Z","timestamp":1573498697000},"page":"183-185","source":"Crossref","is-referenced-by-count":2,"title":["Failure to Thrive, Jaundice, and Polyuria in Early Infancy: Common Presentation with an Uncommon Lethal Etiology"],"prefix":"10.53391","volume":"09","author":[{"given":"Sonia","family":"Sharma","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Unit, Department of Pediatrics, Max Super Speciality Hospital, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2019,11,11]]},"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0039-1700802.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:42Z","timestamp":1758138342000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0039-1700802"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,11]]},"references-count":0,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2020,7,22]]},"published-print":{"date-parts":[[2020,9]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0039-1700802","relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"value":"2146-4596","type":"print"},{"value":"2146-460X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11,11]]}}}