{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T18:31:25Z","timestamp":1787164285622,"version":"build-2736575974"},"reference-count":0,"publisher":"Necmettin Erbakan University Press","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Renal\u2013hepatic\u2013pancreatic dysplasia-1 (RHPD1) is an ultra-rare genetic disorder with a high mortality. It is caused by biallelic pathogenic variants in NPHP3, which encode nephrocytin, an important component of the ciliary protein complex. The NPHP3-related disease phenotype is diverse with RHPD1, nephronophthisis-3, and Meckel syndrome-7. In this case report, we present a female infant with hepatomegaly, cholestasis, and elevated transaminases who was found to carry a homozygous c.2975C\u2009&gt;\u2009T variant of NPHP3. This is the first description of this genotype and RHPD1 phenotype in the literature. The patient is currently being closely monitored for the necessity of combined renal and liver transplantation under supportive treatment.<\/jats:p>","DOI":"10.1055\/s-0039-1696974","type":"journal-article","created":{"date-parts":[[2019,9,12]],"date-time":"2019-09-12T18:44:56Z","timestamp":1568313896000},"page":"101-103","source":"Crossref","is-referenced-by-count":5,"title":["Renal\u2013Hepatic\u2013Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype"],"prefix":"10.53391","volume":"09","author":[{"given":"Yeliz","family":"Cagan Appak","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, SBU Tepecik Training and Research Hospital, Izmir, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masallah","family":"Baran","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Izmir Katip Celebi University, SBU Tepecik Training and Research Hospital, Izmir, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Burcu","family":"Ozturk Hismi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism and Nutrition, SBU Tepecik Training and Research Hospital, Izmir, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berk","family":"Ozyilmaz","sequence":"additional","affiliation":[{"name":"Genetic Diagnosis Center, SBU Tepecik Training and Research Hospital, Izmir, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kader","family":"Vardi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, SBU Tepecik Training and Research Hospital, Izmir, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozge","family":"Ozer Kaya","sequence":"additional","affiliation":[{"name":"Genetic Diagnosis Center, SBU Tepecik Training and Research Hospital, Izmir, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Betul","family":"Aksoy","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, SBU Tepecik Training and Research Hospital, Izmir, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Belde","family":"Kasap Demir","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Izmir Katip Celebi University, SBU Tepecik Training and Research Hospital, Izmir, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"31409","published-online":{"date-parts":[[2019,9,12]]},"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0039-1696974.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:40Z","timestamp":1758138340000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0039-1696974"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9,12]]},"references-count":0,"journal-issue":{"issue":"02","published-online":{"date-parts":[[2020,4,25]]},"published-print":{"date-parts":[[2020,6]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0039-1696974","relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"value":"2146-4596","type":"print"},{"value":"2146-460X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,9,12]]}}}