{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T05:33:47Z","timestamp":1777527227453,"version":"3.51.4"},"reference-count":12,"publisher":"SAGE Publications","issue":"12","license":[{"start":{"date-parts":[[2023,3,21]],"date-time":"2023-03-21T00:00:00Z","timestamp":1679356800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Natural Science Foundation of Fujian Province of China","award":["2021J01411"],"award-info":[{"award-number":["2021J01411"]}]},{"name":"Joint Funds for the innovation of science and Technology, Fujian province","award":["2020Y9158"],"award-info":[{"award-number":["2020Y9158"]}]},{"name":"Nature Science Foundation of Fujian Province of China","award":["2022J01436"],"award-info":[{"award-number":["2022J01436"]}]},{"DOI":"10.13039\/501100001809","name":"National Nature Science Foundation of China","doi-asserted-by":"crossref","award":["82170718"],"award-info":[{"award-number":["82170718"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Startup Fund for scientific research, Fujian Medical University","award":["2021QH1163"],"award-info":[{"award-number":["2021QH1163"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Clin Pediatr (Phila)"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:p>Homozygous deletion of NPHP1 can lead to isolated nephronophthisis (NPHP) and syndromic disorders. However, the phenotype of scalp tumor and hydroureteronephrosis in NPHP patients with homozygous deletion of NPHP1 has not been reported. Clinical data, laboratory results, and genetic testing of 4 NPHP patients were collected. Examination of their eyes, heart, and urinary tract and of their hepatobiliary, skeletal, and central nervous systems was evaluated. Isolated NPHP was observed in 1 case, and syndromic disorders were observed in the other 3 patients. Their syndromic disorders showed NPHP combined with central nervous system defects, eye involvement, scalp tumor, arachnoid cyst, or hydroureteronephrosis. Large homozygous deletions covering the whole NPHP1 gene locus were identified in all 4 patients. We report a novel phenotype of scalp tumor and hydroureteronephrosis in NPHP patients with homozygous deletion of NPHP1, paving an avenue for further research on NPHP1-associated deformity in the skin and the urinary system.<\/jats:p>","DOI":"10.1177\/00099228231162416","type":"journal-article","created":{"date-parts":[[2023,3,21]],"date-time":"2023-03-21T05:15:55Z","timestamp":1679375755000},"page":"1508-1512","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Scalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion"],"prefix":"10.1177","volume":"62","author":[{"given":"Huajuan","family":"Tong","sequence":"first","affiliation":[{"name":"Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China"},{"name":"Department of Nephrology, Rheumatology and Immunology, Fujian Children\u2019s Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feng","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Rheumatology and Immunology, Fujian Children\u2019s Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yonghui","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Rheumatology and Immunology, Fujian Children\u2019s Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaojian","family":"Qiu","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Rheumatology 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for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China"},{"name":"Fujian Key Laboratory of Women and Children\u2019s Critical Diseases Research, Fuzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2023,3,21]]},"reference":[{"key":"bibr1-00099228231162416","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2020.08.012."},{"key":"bibr2-00099228231162416","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a028191."},{"key":"bibr3-00099228231162416","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2017.00287."},{"key":"bibr4-00099228231162416","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2011.284."},{"key":"bibr5-00099228231162416","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2020-107184."},{"key":"bibr6-00099228231162416","doi-asserted-by":"publisher","DOI":"10.1111\/nep.13393."},{"key":"bibr7-00099228231162416","doi-asserted-by":"publisher","DOI":"10.1007\/s13730-017-0252-7."},{"key":"bibr8-00099228231162416","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfl348."},{"key":"bibr9-00099228231162416","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.01280217."},{"key":"bibr10-00099228231162416","doi-asserted-by":"publisher","DOI":"10.1111\/ceo.12469."},{"key":"bibr11-00099228231162416","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2021.653138."},{"key":"bibr12-00099228231162416","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2008.05.016."}],"container-title":["Clinical 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