{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T20:50:39Z","timestamp":1791579039855,"version":"4.3.4"},"reference-count":47,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T00:00:00Z","timestamp":1791504000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T00:00:00Z","timestamp":1791504000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Ciliopathies are genetically heterogeneous disorders of primary cilia that frequently involve the liver in childhood, producing a spectrum of hepatobiliary pathology. Primary cilia on cholangiocytes and hepatic progenitors are mechano-, chemo-, and osmo-sensors essential for remodelling of the ductal plate, the embryologic precursor of the liver\u2019s intrahepatic bile duct system. Disruption of the components of primary cilia (basal body, intraflagellar transport (IFT), transition-zone, trafficking, and endoplasmic reticulum (ER)\/Golgi protein homeostasis components) leads to ductal plate malformation, aberrant biliary branching, and progressive periductal fibrosis. Classical loci (\n                    <jats:italic>PKHD1<\/jats:italic>\n                    ,\n                    <jats:italic>PKD1, PKD2<\/jats:italic>\n                    ) more commonly associated with cystic kidney disease remain central to aetiology, while ER\/glycosylation protein homeostasis genes (\n                    <jats:italic>GANAB<\/jats:italic>\n                    ,\n                    <jats:italic>ALG8<\/jats:italic>\n                    ,\n                    <jats:italic>PRKCSH<\/jats:italic>\n                    ,\n                    <jats:italic>SEC63<\/jats:italic>\n                    ,\n                    <jats:italic>DNAJB11<\/jats:italic>\n                    ), trafficking\/IFT-A and WDR\/dynein-2 components (\n                    <jats:italic>TULP3<\/jats:italic>\n                    , WDR family) are increasingly recognised. Liver disease most often appears from childhood to adolescence in autosomal recessive polycystic kidney disease (ARPKD), Bardet\u2013Biedl syndrome, Joubert syndrome, and WDR-related disorders, while autosomal dominant polycystic kidney and liver disease (ADPKD and ADPLD) usually presents in adulthood. The main disease patterns also vary: congenital hepatic fibrosis and portal hypertension in ARPKD, hepatic cysts in ADPKD, steatotic liver disease in Bardet\u2013Biedl syndrome, and transaminitis or fibrocystic liver disease in Joubert and WDR-related disorders. Emerging contributors such as\n                    <jats:italic>DCDC2<\/jats:italic>\n                    and\n                    <jats:italic>PKD1L1<\/jats:italic>\n                    implicate microtubule\u2013cilium interactions and mechanosensory dysfunction in neonatal cholestasis and biliary atresia. Diagnosis increasingly relies on broad multigene panels or exome\/genome sequencing, with functional assays guiding interpretation of novel alleles.\n                    <jats:italic>Conclusion<\/jats:italic>\n                    :\u00a0This narrative review synthesises contemporary knowledge on ciliary roles in biliary development, the clinical hepatic phenotypes observed in children and adults, and the evolving genetic landscape with emphasis on discoveries from recent sequencing cohorts and functional studies.\n                    <jats:table-wrap>\n                      <jats:table>\n                        <jats:tbody>\n                          <jats:tr>\n                            <jats:td colspan=\"2\">\n                              <jats:bold>What is Known:<\/jats:bold>\n                              \u2022\n                              <jats:italic>Ciliopathies are genetically heterogeneous disorders in which primary cilia dysfunction disrupts cholangiocyte signalling and ductal plate remodelling, leading to a spectrum of paediatric hepatobiliary disease ranging from congenital hepatic fibrosis and portal hypertension to cystic liver disease, steatotic liver disease, and neonatal cholestasis<\/jats:italic>\n                              .\n                            <\/jats:td>\n                          <\/jats:tr>\n                          <jats:tr>\n                            <jats:td colspan=\"2\">\n                              <jats:bold>What is New:<\/jats:bold>\n                              \u2022\n                              <jats:italic>Recent genomic and functional studies have broadened the spectrum of ciliopathy-associated genes implicated in paediatric hepatic disease. Clinicians caring for these children should maintain a high index of suspicion as the range of reported phenotypes continues to expand<\/jats:italic>\n                              .\n                            <\/jats:td>\n                          <\/jats:tr>\n                        <\/jats:tbody>\n                      <\/jats:table>\n                    <\/jats:table-wrap>\n                  <\/jats:p>","DOI":"10.1007\/s00431-026-07468-3","type":"journal-article","created":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T20:11:44Z","timestamp":1791576704000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Hepatic manifestations of ciliopathies: genetic causes and clinical update"],"prefix":"10.1007","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5893-6464","authenticated-orcid":false,"given":"Robert","family":"Hegarty","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoh","family":"Zen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John A.","family":"Sayer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,10,9]]},"reference":[{"issue":"5","key":"7468_CR1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semnephrol.2025.151651","volume":"45","author":"AR Chang","year":"2025","unstructured":"Chang AR, Wongboonsin J, Mallett AJ, Morales A, Retterer K, Mirshahi T et al (2025) Using large genomic biobanks to generate insights into genetic kidney disease. Semin Nephrol 45(5):151651","journal-title":"Semin Nephrol"},{"issue":"5","key":"7468_CR2","doi-asserted-by":"publisher","first-page":"928","DOI":"10.1016\/j.ajhg.2022.03.015","volume":"109","author":"J Devane","year":"2022","unstructured":"Devane J, Ott E, Olinger EG, Epting D, Decker E, Friedrich A et al (2022) Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations. Am J Hum Genet 109(5):928\u2013943","journal-title":"Am J Hum Genet"},{"issue":"6","key":"7468_CR3","doi-asserted-by":"publisher","first-page":"e264","DOI":"10.1016\/j.jhep.2024.07.033","volume":"81","author":"N Ravanbakhsh","year":"2024","unstructured":"Ravanbakhsh N, Genyk Y, Cheng A, Vats D, Yanni G (2024) Biliary cirrhosis associated with WDR19-related ciliopathy in siblings. J Hepatol 81(6):e264\u2013e266","journal-title":"J Hepatol"},{"issue":"1","key":"7468_CR4","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1186\/s13023-020-01585-4","volume":"15","author":"LFM van de Laarschot","year":"2020","unstructured":"van de Laarschot LFM, Te Morsche RHM, Hoischen A, Venselaar H, Roelofs HM, Cnossen WR et al (2020) Novel GANAB variants associated with polycystic liver disease. Orphanet J Rare Dis 15(1):302. https:\/\/doi.org\/10.1186\/s13023-020-01585-4","journal-title":"Orphanet J Rare Dis"},{"issue":"9","key":"7468_CR5","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1038\/nrm.2017.60","volume":"18","author":"JF Reiter","year":"2017","unstructured":"Reiter JF, Leroux MR (2017) Genes and molecular pathways underpinning ciliopathies. Nat Rev Mol Cell Biol 18(9):533\u2013547","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"1","key":"7468_CR6","doi-asserted-by":"publisher","first-page":"1506","DOI":"10.1038\/s41467-023-37208-2","volume":"14","author":"Y Ma","year":"2023","unstructured":"Ma Y, He J, Li S, Yao D, Huang C, Wu J et al (2023) Structural insight into the intraflagellar transport complex IFT-A and its assembly in the anterograde IFT train. Nat Commun 14(1):1506. https:\/\/doi.org\/10.1038\/s41467-023-37208-2","journal-title":"Nat Commun"},{"issue":"6","key":"7468_CR7","doi-asserted-by":"publisher","first-page":"1193","DOI":"10.1016\/j.ajhg.2016.05.004","volume":"98","author":"B Porath","year":"2016","unstructured":"Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K et al (2016) Mutations in GANAB, encoding the glucosidase IIalpha subunit, cause autosomal-dominant polycystic kidney and liver disease. Am J Hum Genet 98(6):1193\u20131207","journal-title":"Am J Hum Genet"},{"key":"7468_CR8","doi-asserted-by":"publisher","first-page":"11491","DOI":"10.1038\/ncomms11491","volume":"7","author":"K Boldt","year":"2016","unstructured":"Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y et al (2016) An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nat Commun 7:11491","journal-title":"Nat Commun"},{"issue":"6","key":"7468_CR9","doi-asserted-by":"publisher","first-page":"1505","DOI":"10.1016\/j.celrep.2016.10.018","volume":"17","author":"W Fu","year":"2016","unstructured":"Fu W, Wang L, Kim S, Li J, Dynlacht BD (2016) Role for the IFT-A complex in selective transport to the primary cilium. Cell Rep 17(6):1505\u20131517","journal-title":"Cell Rep"},{"issue":"6","key":"7468_CR10","doi-asserted-by":"publisher","first-page":"1179","DOI":"10.1016\/j.jhep.2016.07.017","volume":"65","author":"T Grammatikopoulos","year":"2016","unstructured":"Grammatikopoulos T, Sambrotta M, Strautnieks S, Foskett P, Knisely AS, Wagner B et al (2016) Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. J Hepatol 65(6):1179\u20131187","journal-title":"J Hepatol"},{"issue":"1","key":"7468_CR11","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1016\/j.jhep.2024.02.031","volume":"81","author":"YZ Lim","year":"2024","unstructured":"Lim YZ, Zhu M, Wang Y, Sharma T, Kelley S, Oertling E et al (2024) Pkd1l1-deficiency drives biliary atresia through ciliary dysfunction in biliary epithelial cells. J Hepatol 81(1):62\u201375","journal-title":"J Hepatol"},{"issue":"3","key":"7468_CR12","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1002\/hep.30515","volume":"70","author":"JP Berauer","year":"2019","unstructured":"Berauer JP, Mezina AI, Okou DT, Sabo A, Muzny DM, Gibbs RA et al (2019) Identification of polycystic kidney disease 1 like 1 gene variants in children with biliary atresia splenic malformation syndrome. Hepatology 70(3):899\u2013910","journal-title":"Hepatology"},{"key":"7468_CR13","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.049326","author":"RQ Ali","year":"2023","unstructured":"Ali RQ, Meyer-Miner A, David-Rachel M, Lee FJH, Wilkins BJ, Karpen SJ et al (2023) Loss of zebrafish pkd1l1 causes biliary defects that have implications for biliary atresia splenic malformation. Dis Model Mech. https:\/\/doi.org\/10.1242\/dmm.049326","journal-title":"Dis Model Mech"},{"issue":"6","key":"7468_CR14","doi-asserted-by":"publisher","first-page":"1385","DOI":"10.1016\/j.jhep.2023.07.039","volume":"79","author":"JT Glessner","year":"2023","unstructured":"Glessner JT, Ningappa MB, Ngo KA, Zahid M, So J, Higgs BW et al (2023) Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes. J Hepatol 79(6):1385\u20131395","journal-title":"J Hepatol"},{"issue":"38","key":"7468_CR15","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2023.38.e296","volume":"38","author":"Y Kim","year":"2023","unstructured":"Kim Y, Park HC, Ryu H, Kim YC, Ahn C, Lee KB et al (2023) Factors associated with the development and severity of polycystic liver in patients with autosomal dominant polycystic kidney disease. J Korean Med Sci 38(38):e296","journal-title":"J Korean Med Sci"},{"key":"7468_CR16","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-69","volume":"9","author":"WR Cnossen","year":"2014","unstructured":"Cnossen WR, Drenth JP (2014) Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management. Orphanet J Rare Dis 9:69","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"7468_CR17","doi-asserted-by":"publisher","first-page":"64","DOI":"10.2215\/CJN.00080605","volume":"1","author":"KT Bae","year":"2006","unstructured":"Bae KT, Zhu F, Chapman AB, Torres VE, Grantham JJ, Guay-Woodford LM et al (2006) Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort. Clin J Am Soc Nephrol 1(1):64\u201369","journal-title":"Clin J Am Soc Nephrol"},{"issue":"1-2","key":"7468_CR18","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/j.ymgme.2020.08.006","volume":"131","author":"N Abdul Majeed","year":"2020","unstructured":"Abdul Majeed N, Font-Montgomery E, Lukose L, Bryant J, Veppumthara P, Choyke PL et al (2020) Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis. Mol Genet Metab 131(1\u20132):267\u2013276","journal-title":"Mol Genet Metab"},{"issue":"6","key":"7468_CR19","doi-asserted-by":"publisher","first-page":"e1","DOI":"10.1053\/j.gastro.2021.08.048","volume":"162","author":"W Gan","year":"2022","unstructured":"Gan W, Liao B, Li X (2022) A rare cause of liver fibrosis in adulthood. Gastroenterology 162(6):e1\u2013e3","journal-title":"Gastroenterology"},{"issue":"9","key":"7468_CR20","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1038\/jhg.2016.58","volume":"61","author":"S Melchionda","year":"2016","unstructured":"Melchionda S, Palladino T, Castellana S, Giordano M, Benetti E, De Bonis P et al (2016) Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. J Hum Genet 61(9):811\u201321","journal-title":"J Hum Genet"},{"issue":"2","key":"7468_CR21","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1016\/j.ymgme.2009.10.010","volume":"99","author":"M Gunay-Aygun","year":"2010","unstructured":"Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A et al (2010) PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. Mol Genet Metab 99(2):160\u201373","journal-title":"Mol Genet Metab"},{"issue":"1","key":"7468_CR22","doi-asserted-by":"publisher","DOI":"10.1093\/ckj\/sfae363","volume":"18","author":"S Arjune","year":"2025","unstructured":"Arjune S, Todorova P, Bartram MP, Grundmann F, Muller RU (2025) Liver manifestations in autosomal dominant polycystic kidney disease (ADPKD) and their impact on quality of life. Clin Kidney J 18(1):sfae363","journal-title":"Clin Kidney J"},{"key":"7468_CR23","doi-asserted-by":"publisher","DOI":"10.1126\/science.aat9819","author":"Q Su","year":"2018","unstructured":"Su Q, Hu F, Ge X, Lei J, Yu S, Wang T et al (2018) Structure of the human PKD1-PKD2 complex. Science. https:\/\/doi.org\/10.1126\/science.aat9819","journal-title":"Science"},{"key":"7468_CR24","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.846877","volume":"13","author":"Z Yu","year":"2022","unstructured":"Yu Z, Shen X, Hu C, Zeng J, Wang A, Chen J (2022) Molecular mechanisms of isolated polycystic liver diseases. Front Genet 13:846877","journal-title":"Front Genet"},{"issue":"3","key":"7468_CR25","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1016\/j.kint.2022.11.025","volume":"103","author":"B Apple","year":"2023","unstructured":"Apple B, Sartori G, Moore B, Chintam K, Singh G, Anand PM et al (2023) Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease. Kidney Int 103(3):607\u2013615","journal-title":"Kidney Int"},{"issue":"2","key":"7468_CR26","doi-asserted-by":"publisher","first-page":"476","DOI":"10.1016\/j.kint.2020.02.022","volume":"98","author":"VT Huynh","year":"2020","unstructured":"Huynh VT, Audrezet MP, Sayer JA, Ong AC, Lefevre S, Le Brun V et al (2020) Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease. Kidney Int 98(2):476\u2013487","journal-title":"Kidney Int"},{"issue":"5","key":"7468_CR27","doi-asserted-by":"publisher","first-page":"832","DOI":"10.1016\/j.ajhg.2018.03.013","volume":"102","author":"E Cornec-Le Gall","year":"2018","unstructured":"Cornec-Le Gall E, Olson RJ, Besse W, Heyer CM, Gainullin VG, Smith JM et al (2018) Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease. Am J Hum Genet 102(5):832\u2013844","journal-title":"Am J Hum Genet"},{"issue":"1","key":"7468_CR28","doi-asserted-by":"publisher","first-page":"4946","DOI":"10.1038\/s41467-025-60294-3","volume":"16","author":"M Ahmed","year":"2025","unstructured":"Ahmed M, Fischer S, Robert KL, Lange KI, Stuck MW, Best S et al (2025) Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis. Nat Commun 16(1):4946","journal-title":"Nat Commun"},{"issue":"6","key":"7468_CR29","doi-asserted-by":"publisher","first-page":"2713","DOI":"10.1002\/jcp.30788","volume":"237","author":"YL Qiu","year":"2022","unstructured":"Qiu YL, Wang L, Huang M, Lian M, Wang F, Gong Y et al (2022) Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis. J Cell Physiol 237(6):2713\u20132723","journal-title":"J Cell Physiol"},{"issue":"2","key":"7468_CR30","doi-asserted-by":"publisher","first-page":"E432","DOI":"10.1002\/humu.20924","volume":"30","author":"F Brancati","year":"2009","unstructured":"Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E et al (2009) MKS3\/TMEM67 mutations are a major cause of COACH syndrome, a Joubert syndrome related disorder with liver involvement. Hum Mutat 30(2):E432\u2013E442","journal-title":"Hum Mutat"},{"issue":"1","key":"7468_CR31","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1038\/ejhg.2012.115","volume":"21","author":"E Forsythe","year":"2013","unstructured":"Forsythe E, Beales PL (2013) Bardet-Biedl syndrome. Eur J Hum Genet 21(1):8\u201313","journal-title":"Eur J Hum Genet"},{"issue":"6","key":"7468_CR32","doi-asserted-by":"publisher","first-page":"578","DOI":"10.1136\/jmg-2022-108754","volume":"60","author":"M Harion","year":"2023","unstructured":"Harion M, Qebibo L, Riquet A, Rougeot C, Afenjar A, Garel C et al (2023) New insights into CC2D2A-related Joubert syndrome. J Med Genet 60(6):578\u2013586","journal-title":"J Med Genet"},{"issue":"9","key":"7468_CR33","doi-asserted-by":"publisher","first-page":"894","DOI":"10.1016\/S1474-4422(13)70136-4","volume":"12","author":"M Romani","year":"2013","unstructured":"Romani M, Micalizzi A, Valente EM (2013) Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol 12(9):894\u2013905","journal-title":"Lancet Neurol"},{"issue":"6","key":"7468_CR34","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1007\/s00467-012-2259-9","volume":"28","author":"HH Arts","year":"2013","unstructured":"Arts HH, Knoers NV (2013) Current insights into renal ciliopathies: what can genetics teach us? Pediatr Nephrol 28(6):863\u2013874","journal-title":"Pediatr Nephrol"},{"issue":"4","key":"7468_CR35","doi-asserted-by":"publisher","first-page":"455","DOI":"10.1038\/ng1216","volume":"34","author":"H Olbrich","year":"2003","unstructured":"Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A et al (2003) Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet 34(4):455\u2013459","journal-title":"Nat Genet"},{"issue":"1","key":"7468_CR36","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1681\/ASN.2008050456","volume":"20","author":"F Hildebrandt","year":"2009","unstructured":"Hildebrandt F, Attanasio M, Otto E (2009) Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol 20(1):23\u201335","journal-title":"J Am Soc Nephrol"},{"issue":"12","key":"7468_CR37","doi-asserted-by":"publisher","first-page":"1791","DOI":"10.1038\/s41431-018-0212-5","volume":"26","author":"E Molinari","year":"2018","unstructured":"Molinari E, Decker E, Mabillard H, Tellez J, Srivastava S, Raman S et al (2018) Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants. Eur J Hum Genet 26(12):1791\u20131796","journal-title":"Eur J Hum Genet"},{"issue":"10","key":"7468_CR38","doi-asserted-by":"publisher","first-page":"663","DOI":"10.1136\/jmg.2009.066613","volume":"46","author":"EA Otto","year":"2009","unstructured":"Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y et al (2009) Hypomorphic mutations in meckelin (MKS3\/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). J Med Genet 46(10):663\u2013670","journal-title":"J Med Genet"},{"issue":"1","key":"7468_CR39","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1038\/ncb3273","volume":"18","author":"NJ Lambacher","year":"2016","unstructured":"Lambacher NJ, Bruel AL, van Dam TJ, Szymanska K, Slaats GG, Kuhns S et al (2016) TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Nat Cell Biol 18(1):122\u2013131","journal-title":"Nat Cell Biol"},{"issue":"4","key":"7468_CR40","doi-asserted-by":"publisher","DOI":"10.1016\/j.jceh.2025.102542","volume":"15","author":"A Shastri","year":"2025","unstructured":"Shastri A, Balaraja S, De A, Mitra S, Duseja A (2025) Unearthing TULP3 mutation as a rare cause of cryptogenic cirrhosis: a case report and review of the literature. J Clin Exp Hepatol 15(4):102542","journal-title":"J Clin Exp Hepatol"},{"issue":"4","key":"7468_CR41","doi-asserted-by":"publisher","first-page":"682","DOI":"10.21037\/tp-23-574","volume":"13","author":"L Liu","year":"2024","unstructured":"Liu L, Huang Y, Fang F, Zhou H, Liu X (2024) A case report of intrahepatic bile duct dilatation caused by WDR19 gene mutation and presented as Caroli syndrome. Transl Pediatr 13(4):682\u2013689","journal-title":"Transl Pediatr"},{"issue":"1","key":"7468_CR42","doi-asserted-by":"publisher","DOI":"10.1016\/j.heliyon.2023.e23257","volume":"10","author":"X Tang","year":"2024","unstructured":"Tang X, Yi S, Qin Z, Yi S, Chen J, Yang Q et al (2024) Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: case report. Heliyon 10(1):e23257","journal-title":"Heliyon"},{"issue":"3","key":"7468_CR43","doi-asserted-by":"publisher","first-page":"743","DOI":"10.1083\/jcb.201607095","volume":"216","author":"HB Badgandi","year":"2017","unstructured":"Badgandi HB, Hwang SH, Shimada IS, Loriot E, Mukhopadhyay S (2017) Tubby family proteins are adapters for ciliary trafficking of integral membrane proteins. J Cell Biol 216(3):743\u2013760","journal-title":"J Cell Biol"},{"issue":"19","key":"7468_CR44","doi-asserted-by":"publisher","first-page":"2180","DOI":"10.1101\/gad.1966210","volume":"24","author":"S Mukhopadhyay","year":"2010","unstructured":"Mukhopadhyay S, Wen X, Chih B, Nelson CD, Lane WS, Scales SJ et al (2010) TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia. Genes Dev 24(19):2180\u20132193","journal-title":"Genes Dev"},{"key":"7468_CR45","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.39655","author":"L Vuolo","year":"2018","unstructured":"Vuolo L, Stevenson NL, Heesom KJ, Stephens DJ (2018) Dynein-2 intermediate chains play crucial but distinct roles in primary cilia formation and function. Elife. https:\/\/doi.org\/10.7554\/eLife.39655","journal-title":"Elife"},{"issue":"2","key":"7468_CR46","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1007\/s12072-025-10995-0","volume":"20","author":"Z Shi","year":"2026","unstructured":"Shi Z, Han Y, Jin H, Zhang X, Wang L, Tou J et al (2026) Another ciliopathy? Uncovering the ciliary basis of biliary atresia. Hepatol Int 20(2):261\u2013271","journal-title":"Hepatol Int"},{"issue":"6","key":"7468_CR47","doi-asserted-by":"publisher","first-page":"1484","DOI":"10.1016\/j.cell.2015.10.065","volume":"163","author":"GD Gupta","year":"2015","unstructured":"Gupta GD, Coyaud E, Goncalves J, Mojarad BA, Liu Y, Wu Q et al (2015) A dynamic protein interaction landscape of the human centrosome-cilium interface. Cell 163(6):1484\u20131499","journal-title":"Cell"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-026-07468-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00431-026-07468-3","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-026-07468-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T20:11:45Z","timestamp":1791576705000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00431-026-07468-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,9]]},"references-count":47,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2026,11]]}},"alternative-id":["7468"],"URL":"https:\/\/doi.org\/10.1007\/s00431-026-07468-3","relation":{},"ISSN":["1432-1076"],"issn-type":[{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,9]]},"assertion":[{"value":"2 September 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 September 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 September 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 October 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"825"}}