{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T02:43:37Z","timestamp":1790649817800,"version":"4.1.0"},"reference-count":89,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2018,2,9]],"date-time":"2018-02-09T00:00:00Z","timestamp":1518134400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"DOI":"10.3389\/fped.2017.00221","type":"journal-article","created":{"date-parts":[[2018,2,9]],"date-time":"2018-02-09T04:24:37Z","timestamp":1518150277000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":119,"title":["Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses"],"prefix":"10.3389","volume":"5","author":[{"given":"Carsten","family":"Bergmann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2018,2,9]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"880","DOI":"10.1038\/nrm2278","article-title":"When cilia go bad: cilia defects and ciliopathies","volume":"8","author":"Fliegauf","year":"2007","journal-title":"Nat Rev Mol Cell Biol"},{"key":"B2","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1016\/j.cell.2009.03.023","article-title":"The vertebrate primary cilium in development, homeostasis, and disease","volume":"137","author":"Gerdes","year":"2009","journal-title":"Cell"},{"key":"B3","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1016\/j.cell.2009.10.036","article-title":"Centrioles, centrosomes, and cilia in health and disease","volume":"139","author":"Nigg","year":"2009","journal-title":"Cell"},{"key":"B4","doi-asserted-by":"publisher","first-page":"1533","DOI":"10.1056\/NEJMra1010172","article-title":"Ciliopathies","volume":"364","author":"Hildebrandt","year":"2011","journal-title":"N Engl J Med"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-013-2706-2","article-title":"ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies","volume":"15","author":"Bergmann","year":"2015","journal-title":"Pediatr Nephrol"},{"key":"B6","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1007\/s00467-010-1656-1","article-title":"Diagnosis and management of childhood polycystic kidney disease","volume":"26","author":"Sweeney","year":"2011","journal-title":"Pediatr Nephrol"},{"key":"B7","doi-asserted-by":"publisher","first-page":"573","DOI":"10.1016\/j.bpg.2010.08.007","article-title":"Congenital fibrocystic liver diseases","volume":"24","author":"Drenth","year":"2010","journal-title":"Best Pract Res Clin Gastroenterol"},{"key":"B8","doi-asserted-by":"publisher","first-page":"1201","DOI":"10.1016\/j.jhep.2011.10.014","article-title":"It\u2019s not all in the cilium, but on the road to it: genetic interaction network in polycystic kidney and liver diseases and how trafficking and quality control matter","volume":"56","author":"Bergmann","year":"2012","journal-title":"J Hepatol"},{"key":"B9","doi-asserted-by":"publisher","first-page":"2537","DOI":"10.15252\/embj.201488044","article-title":"Formation of the transition zone by Mks5\/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundance","volume":"34","author":"Jensen","year":"2015","journal-title":"EMBO J"},{"key":"B10","doi-asserted-by":"publisher","first-page":"608","DOI":"10.1038\/embor.2012.73","article-title":"The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization","volume":"13","author":"Reiter","year":"2012","journal-title":"EMBO Rep"},{"key":"B11","doi-asserted-by":"publisher","first-page":"89","DOI":"10.3233\/PGE-14092","article-title":"Autosomal recessive polycystic kidney disease: the prototype of the hepato-renal fibrocystic diseases","volume":"3","author":"Guay-Woodford","year":"2014","journal-title":"J Pediatr Genet"},{"key":"B12","doi-asserted-by":"publisher","first-page":"592","DOI":"10.1097\/01.ASN.0000113793.12558.1D","article-title":"The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area","volume":"15","author":"Wang","year":"2004","journal-title":"J Am Soc Nephrol"},{"key":"B13","volume-title":"Polycystic Kidney Disease: ADPKD and ARPKD. Pediatric Kidney Disease","author":"Liebau","year":"2016"},{"key":"B14","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1002\/humu.20145","article-title":"Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD)","volume":"25","author":"Bergmann","year":"2005","journal-title":"Hum Mutat"},{"key":"B15","doi-asserted-by":"publisher","first-page":"1072","DOI":"10.1542\/peds.111.5.1072","article-title":"Autosomal recessive polycystic kidney disease: the clinical experience in North America","volume":"111","author":"Guay-Woodford","year":"2003","journal-title":"Pediatrics"},{"key":"B16","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1016\/j.jpeds.2006.03.014","article-title":"Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health\/Office of Rare Diseases Conference","volume":"149","author":"Gunay-Aygun","year":"2006","journal-title":"J Pediatr"},{"key":"B17","doi-asserted-by":"publisher","first-page":"474","DOI":"10.1136\/jmg.24.8.474","article-title":"Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patients","volume":"24","author":"K\u00e4\u00e4ri\u00e4inen","year":"1987","journal-title":"J Med Genet"},{"key":"B18","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1097\/01.md.0000200165.90373.9a","article-title":"Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD)","volume":"85","author":"Adeva","year":"2006","journal-title":"Medicine (Baltimore)"},{"key":"B19","doi-asserted-by":"publisher","first-page":"829","DOI":"10.1111\/j.1523-1755.2005.00148.x","article-title":"Clinical consequences of PKHD1 mutations in 164 patients with autosomal recessive polycystic kidney disease (ARPKD)","volume":"67","author":"Bergmann","year":"2005","journal-title":"Kidney Int"},{"key":"B20","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1007\/s00247-001-0624-0","article-title":"Hereditary polycystic kidney diseases in children: changing sonographic patterns through childhood","volume":"32","author":"Avni","year":"2002","journal-title":"Pediatr Radiol"},{"key":"B21","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1007\/s00247-008-1064-x","article-title":"Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD\/CHF)","volume":"39","author":"Turkbey","year":"2009","journal-title":"Pediatr Radiol"},{"key":"B22","doi-asserted-by":"publisher","first-page":"80","DOI":"10.4065\/73.1.80","article-title":"Ludwig symposium on biliary disorders-part I. Pathogenesis of ductal plate abnormalities","volume":"73","author":"Desmet","year":"1998","journal-title":"Mayo Clin Proc"},{"key":"B23","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1111\/petr.12076","article-title":"New approaches to the autosomal recessive polycystic kidney disease patient with dual kidney-liver complications","volume":"17","author":"Telega","year":"2013","journal-title":"Pediatr Transplant"},{"key":"B24","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1046\/j.1523-1755.2003.00111.x","article-title":"A complete mutation screen of PKHD1 in autosomal recessive polycystic kidney pedigrees","volume":"64","author":"Rossetti","year":"2003","journal-title":"Kidney Int"},{"key":"B25","doi-asserted-by":"publisher","first-page":"417","DOI":"10.2353\/ajpath.2008.070381","article-title":"Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1","volume":"172","author":"Gallagher","year":"2008","journal-title":"Am J Pathol"},{"key":"B26","doi-asserted-by":"publisher","first-page":"1940","DOI":"10.1093\/hmg\/ddm141","article-title":"Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway","volume":"16","author":"Garcia-Gonzalez","year":"2007","journal-title":"Hum Mol Genet"},{"key":"B27","doi-asserted-by":"publisher","first-page":"1113","DOI":"10.1002\/hep.20655","article-title":"A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)","volume":"41","author":"Moser","year":"2005","journal-title":"Hepatology"},{"key":"B28","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1038\/sj.ki.5002294","article-title":"A mouse model of autosomal recessive polycystic kidney disease with biliary duct and proximal tubule dilatation","volume":"72","author":"Woollard","year":"2007","journal-title":"Kidney Int"},{"key":"B29","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1038\/ng833","article-title":"The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein","volume":"30","author":"Ward","year":"2002","journal-title":"Nat Genet"},{"key":"B30","doi-asserted-by":"publisher","first-page":"1305","DOI":"10.1086\/340448","article-title":"PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats","volume":"70","author":"Onuchic","year":"2002","journal-title":"Am J Hum Genet"},{"key":"B31","doi-asserted-by":"publisher","first-page":"2246","DOI":"10.1097\/01.ASN.0000030392.19694.9D","article-title":"Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene","volume":"13","author":"Nagasawa","year":"2002","journal-title":"J Am Soc Nephrol"},{"key":"B32","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1083\/jcb.200910096","article-title":"The cytoplasmic tail of fibrocystin contains a ciliary targeting sequence","volume":"188","author":"Follit","year":"2010","journal-title":"J Cell Biol"},{"key":"B33","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1055\/s-0034-1365722","article-title":"Zystische Nierenerkrankungen und Ziliopathien","volume":"9","author":"Bergmann","year":"2014","journal-title":"P\u00e4diatrie up2date"},{"key":"B34","doi-asserted-by":"publisher","first-page":"1303","DOI":"10.1016\/j.gastro.2003.09.001","article-title":"Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat","volume":"125","author":"Masyuk","year":"2003","journal-title":"Gastroenterology"},{"key":"B35","doi-asserted-by":"publisher","first-page":"1345","DOI":"10.1111\/j.1523-1755.2004.00844.x","article-title":"Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm","volume":"66","author":"Menezes","year":"2004","journal-title":"Kidney Int"},{"key":"B36","doi-asserted-by":"publisher","first-page":"2703","DOI":"10.1093\/hmg\/ddg274","article-title":"Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia","volume":"12","author":"Ward","year":"2003","journal-title":"Hum Mol Genet"},{"key":"B37","doi-asserted-by":"publisher","first-page":"2311","DOI":"10.1073\/pnas.0400073101","article-title":"PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells","volume":"101","author":"Zhang","year":"2004","journal-title":"Proc Natl Acad Sci U S A"},{"key":"B38","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1146\/annurev.med.60.101707.125712","article-title":"Polycystic kidney disease","volume":"60","author":"Harris","year":"2009","journal-title":"Annu Rev Med"},{"key":"B39","doi-asserted-by":"publisher","first-page":"34357","DOI":"10.1074\/jbc.M606740200","article-title":"Proteolytic cleavage and nuclear translocation of fibrocystin is regulated by intracellular Ca2+ and activation of protein kinase C","volume":"281","author":"Hiesberger","year":"2006","journal-title":"J Biol Chem"},{"key":"B40","doi-asserted-by":"publisher","first-page":"942","DOI":"10.1093\/hmg\/ddm039","article-title":"Polyductin undergoes notch-like processing and regulated release from primary cilia","volume":"16","author":"Kaimori","year":"2007","journal-title":"Hum Mol Genet"},{"key":"B41","doi-asserted-by":"publisher","first-page":"1588","DOI":"10.1046\/j.1523-1755.2002.00326.x","article-title":"A complete mutation screen of the ADPKD genes by DHPLC","volume":"61","author":"Rossetti","year":"2002","journal-title":"Kidney Int"},{"key":"B42","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1097\/01.ASN.0000039578.55705.6E","article-title":"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD\/PKHD1)","volume":"14","author":"Bergmann","year":"2003","journal-title":"J Am Soc Nephrol"},{"key":"B43","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1002\/humu.20029","article-title":"PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)","volume":"23","author":"Bergmann","year":"2004","journal-title":"Hum Mutat"},{"key":"B44","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1002\/humu.20019","article-title":"PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)","volume":"23","author":"Bergmann","year":"2004","journal-title":"Hum Mutat"},{"key":"B45","doi-asserted-by":"publisher","first-page":"2004","DOI":"10.1097\/01.ASN.0000078805.87038.05","article-title":"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations","volume":"14","author":"Furu","year":"2003","journal-title":"J Am Soc Nephrol"},{"key":"B46","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1007\/s00439-005-0027-7","article-title":"Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD)","volume":"118","author":"Losekoot","year":"2005","journal-title":"Hum Genet"},{"key":"B47","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1016\/j.ymgme.2009.10.010","article-title":"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis","volume":"99","author":"Gunay-Aygun","year":"2010","journal-title":"Mol Genet Metab"},{"key":"B48","doi-asserted-by":"publisher","first-page":"972","DOI":"10.2215\/CJN.07141009","article-title":"Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease","volume":"5","author":"Gunay-Aygun","year":"2010","journal-title":"Clin J Am Soc Nephrol"},{"key":"B49","doi-asserted-by":"publisher","first-page":"737","DOI":"10.1136\/jmg.2004.029538","article-title":"Splicing in action: assessing disease causing sequence changes","volume":"42","author":"Baralle","year":"2005","journal-title":"J Med Genet"},{"key":"B50","doi-asserted-by":"publisher","first-page":"788","DOI":"10.1007\/s10038-006-0022-4","article-title":"Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease","volume":"51","author":"Bergmann","year":"2006","journal-title":"J Hum Genet"},{"key":"B51","doi-asserted-by":"publisher","first-page":"e63","DOI":"10.1136\/jmg.2005.032318","article-title":"Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)","volume":"42","author":"Bergmann","year":"2005","journal-title":"J Med Genet"},{"key":"B52","volume-title":"Autosomal Recessive Polycystic Kidney Disease","author":"Bergmann","year":"2014"},{"key":"B53","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1007\/s00467-013-2657-7","article-title":"Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease","volume":"29","author":"Krall","year":"2013","journal-title":"Pediatr Nephrol"},{"key":"B54","doi-asserted-by":"publisher","first-page":"1045","DOI":"10.1007\/s00109-014-1185-7","article-title":"Intragenic motifs regulate the transcriptional complexity of Pkhd1\/PKHD1","volume":"92","author":"Boddu","year":"2014","journal-title":"J Mol Med"},{"key":"B55","doi-asserted-by":"publisher","first-page":"1729","DOI":"10.2215\/CJN.00920114","article-title":"Transcriptional complexity in autosomal recessive polycystic kidney disease","volume":"9","author":"Frank","year":"2014","journal-title":"Clin J Am Soc Nephrol"},{"key":"B56","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1111\/j.1399-0004.1995.tb04305.x","article-title":"Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships","volume":"47","author":"Deget","year":"1995","journal-title":"Clin Genet"},{"key":"B57","doi-asserted-by":"publisher","first-page":"1287","DOI":"10.1016\/S0140-6736(07)60601-1","article-title":"Autosomal dominant polycystic kidney disease","volume":"369","author":"Torres","year":"2007","journal-title":"Lancet"},{"key":"B58","doi-asserted-by":"publisher","first-page":"1025","DOI":"10.1038\/ng.3871","article-title":"Mutations in DZIP1L, which encodes a ciliary-transition zone protein, cause autosomal recessive polycystic kidney disease","volume":"49","author":"Lu","year":"2017","journal-title":"Nat Genet"},{"key":"B59","doi-asserted-by":"publisher","first-page":"3013","DOI":"10.1681\/ASN.2006080835","article-title":"Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease","volume":"17","author":"Harris","year":"2006","journal-title":"J Am Soc Nephrol"},{"key":"B60","doi-asserted-by":"publisher","first-page":"1006","DOI":"10.1681\/ASN.2012070650","article-title":"Type of PKD1 mutation influences renal outcome in ADPKD","volume":"24","author":"Cornec-Le Gall","year":"2013","journal-title":"J Am Soc Nephrol"},{"key":"B61","doi-asserted-by":"publisher","first-page":"1193","DOI":"10.1016\/j.ajhg.2016.05.004","article-title":"Mutations in GANAB, encoding the glucosidase iialpha subunit, cause autosomal-dominant polycystic kidney and liver disease","volume":"98","author":"Porath","year":"2016","journal-title":"Am J Hum Genet"},{"key":"B62","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1038\/ki.2009.128","article-title":"Autosomal dominant polycystic kidney disease: the last 3 years","volume":"76","author":"Torres","year":"2009","journal-title":"Kidney Int"},{"key":"B63","doi-asserted-by":"publisher","first-page":"2047","DOI":"10.1681\/ASN.2010101080","article-title":"Mutations in multiple PKD genes may explain early and severe polycystic kidney disease","volume":"22","author":"Bergmann","year":"2011","journal-title":"J Am Soc Nephrol"},{"key":"B64","doi-asserted-by":"publisher","first-page":"455","DOI":"10.1681\/ASN.2007070770","article-title":"Fibrocystin\/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function","volume":"19","author":"Kim","year":"2008","journal-title":"J Am Soc Nephrol"},{"key":"B65","doi-asserted-by":"publisher","first-page":"3241","DOI":"10.1128\/MCB.00072-07","article-title":"Fibrocystin\/polyductin, found in the same protein complex with polycystin-2, regulates calcium responses in kidney epithelia","volume":"27","author":"Wang","year":"2007","journal-title":"Mol Cell Biol"},{"key":"B66","doi-asserted-by":"publisher","first-page":"3280","DOI":"10.1093\/hmg\/ddl404","article-title":"Kinesin-2 mediates physical and functional interactions between polycystin-2 and fibrocystin","volume":"15","author":"Wu","year":"2006","journal-title":"Hum Mol Genet"},{"key":"B67","doi-asserted-by":"publisher","first-page":"1033","DOI":"10.1038\/nature09144","article-title":"A coding-independent function of gene and pseudogene mRNAs regulates tumour biology","volume":"465","author":"Poliseno","year":"2010","journal-title":"Nature"},{"key":"B68","doi-asserted-by":"publisher","first-page":"e0116680","DOI":"10.1371\/journal.pone.0116680","article-title":"An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease","volume":"10","author":"Eisenberger","year":"2015","journal-title":"PLoS One"},{"key":"B69","doi-asserted-by":"publisher","first-page":"639","DOI":"10.1038\/ng.860","article-title":"A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation","volume":"43","author":"Fedeles","year":"2011","journal-title":"Nat Genet"},{"key":"B70","doi-asserted-by":"publisher","first-page":"1345","DOI":"10.1056\/NEJMra055323","article-title":"The tuberous sclerosis complex","volume":"355","author":"Crino","year":"2006","journal-title":"N Engl J Med"},{"key":"B71","doi-asserted-by":"publisher","first-page":"792","DOI":"10.1016\/S0025-6196(12)61196-3","article-title":"Causes of death in patients with tuberous sclerosis","volume":"66","author":"Shepherd","year":"1991","journal-title":"Mayo Clin Proc"},{"key":"B72","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1038\/nrc2502","article-title":"The von Hippel-Lindau tumour suppressor protein: O2 sensing and cancer","volume":"8","author":"Kaelin","year":"2008","journal-title":"Nat Rev Cancer"},{"key":"B73","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1038\/ki.2010.457","article-title":"mTOR and rapamycin in the kidney: signaling and therapeutic implications beyond immunosuppression","volume":"79","author":"Huber","year":"2010","journal-title":"Kidney Int"},{"key":"B74","doi-asserted-by":"publisher","first-page":"5466","DOI":"10.1073\/pnas.0509694103","article-title":"The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease","volume":"103","author":"Shillingford","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"key":"B75","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1681\/ASN.2015050544","article-title":"Hepatocyte nuclear factor 1beta-associated kidney disease: more than renal cysts and diabetes","volume":"27","author":"Verhave","year":"2016","journal-title":"J Am Soc Nephrol"},{"key":"B76","doi-asserted-by":"publisher","first-page":"618","DOI":"10.1016\/j.ajhg.2010.10.004","article-title":"Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia","volume":"87","author":"Moreno-De-Luca","year":"2010","journal-title":"Am J Hum Genet"},{"key":"B77","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1038\/ejhg.2009.174","article-title":"Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12","volume":"18","author":"Nagamani","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"B78","doi-asserted-by":"publisher","first-page":"923","DOI":"10.1681\/ASN.2006091057","article-title":"Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys","volume":"18","author":"Decramer","year":"2007","journal-title":"J Am Soc Nephrol"},{"key":"B79","doi-asserted-by":"publisher","first-page":"814","DOI":"10.1172\/JCI200420083","article-title":"Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice","volume":"113","author":"Hiesberger","year":"2004","journal-title":"J Clin Invest"},{"key":"B80","doi-asserted-by":"publisher","first-page":"951","DOI":"10.1038\/ng.2681","article-title":"ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3","volume":"45","author":"Hoff","year":"2013","journal-title":"Nat Genet"},{"key":"B81","doi-asserted-by":"publisher","first-page":"1855","DOI":"10.1681\/ASN.2006121344","article-title":"Nephronophthisis-associated ciliopathies","volume":"18","author":"Hildebrandt","year":"2007","journal-title":"J Am Soc Nephrol"},{"key":"B82","doi-asserted-by":"publisher","first-page":"2333","DOI":"10.1007\/s00467-008-0840-z","article-title":"Nephronophthisis","volume":"24","author":"Salomon","year":"2009","journal-title":"Pediatr Nephrol"},{"key":"B83","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/B978-0-323-04883-5.50014-3","article-title":"Nephronophthis and medullary cystic kidney disease","volume-title":"Comprehensive Pediatric Nephrology","author":"Omran","year":"2008"},{"key":"B84","doi-asserted-by":"publisher","first-page":"959","DOI":"10.1016\/j.ajhg.2008.02.017","article-title":"Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia","volume":"82","author":"Bergmann","year":"2008","journal-title":"Am J Hum Genet"},{"key":"B85","doi-asserted-by":"publisher","first-page":"326","DOI":"10.1002\/ajmg.c.30229","article-title":"Clinical and molecular features of Joubert syndrome and related disorders","author":"Parisi","year":"2009","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"B86","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1161\/STROKEAHA.110.578740","article-title":"Screening for intracranial aneurysm in 355 patients with autosomal-dominant polycystic kidney disease","volume":"42","author":"Xu","year":"2011","journal-title":"Stroke"},{"key":"B87","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1681\/ASN.V131269","article-title":"Management of cerebral aneurysms in autosomal dominant polycystic kidney disease","volume":"13","author":"Pirson","year":"2002","journal-title":"J Am Soc Nephrol"},{"key":"B88","doi-asserted-by":"crossref","first-page":"1871","DOI":"10.1681\/ASN.V3121871","article-title":"Value of magnetic resonance angiography for the detection of intracranial aneurysms in autosomal dominant polycystic kidney disease","volume":"3","author":"Huston","year":"1993","journal-title":"J Am Soc Nephrol"},{"key":"B89","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1148\/radiology.191.1.8134594","article-title":"Occult intracranial aneurysms in polycystic kidney disease: screening with MR angiography","volume":"191","author":"Ruggieri","year":"1994","journal-title":"Radiology"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"http:\/\/journal.frontiersin.org\/article\/10.3389\/fped.2017.00221\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,14]],"date-time":"2022-08-14T03:19:12Z","timestamp":1660447152000},"score":1,"resource":{"primary":{"URL":"http:\/\/journal.frontiersin.org\/article\/10.3389\/fped.2017.00221\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2,9]]},"references-count":89,"alternative-id":["10.3389\/fped.2017.00221"],"URL":"https:\/\/doi.org\/10.3389\/fped.2017.00221","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2,9]]},"article-number":"221"}}