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In 10%\u201320% of cases, there are additional features of a ciliopathy syndrome, such as retinal defects, liver fibrosis, skeletal abnormalities, and brain developmental disorders. This review provides an update of the recent advances in the clinical features and related gene mutations of nephronophthisis, and novel approaches for therapy in nephronophthisis patients may be needed.<\/jats:p>","DOI":"10.1111\/nep.13393","type":"journal-article","created":{"date-parts":[[2018,5,2]],"date-time":"2018-05-02T06:53:41Z","timestamp":1525244021000},"page":"904-911","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":93,"title":["Nephronophthisis: A review of genotype\u2013phenotype correlation"],"prefix":"10.1111","volume":"23","author":[{"given":"Fenglan","family":"Luo","sequence":"first","affiliation":[{"name":"Department of Pediatrics West China Second University Hospital, Sichuan University  Sichuan Chengdu China"},{"name":"Key Laboratory of Obstetric &amp; Gynecologic and Pediatric Diseases and Birth Defects of Ministry Education West China Second University Hospital, Sichuan University  Sichuan Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu\u2010Hong","family":"Tao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics West China Second University Hospital, Sichuan University  Sichuan Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,6,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200268"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.12.011"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2008050456"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1053\/ajkd.2000.19845"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-011-1761-9"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.3233\/PGE-14086"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/ceo.12469"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101282"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30225"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.4161\/org.27375"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1217"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006101164"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfl088"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1216"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/nep.12563"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2008.662"},{"key":"e_1_2_8_18_1","first-page":"423","article-title":"Diverse phenotypic expression of NPHP4 mutations in four siblings","volume":"56","author":"Bakkalo\u011flu SA","year":"2014","journal-title":"Turk. 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