{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T23:34:50Z","timestamp":1777937690748,"version":"3.51.4"},"reference-count":277,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:p>Congenital anomalies of the kidney and urinary tract (CAKUT) accounts for up to 30% of antenatal congenital anomalies and is the main cause of kidney failure in children worldwide. This review focuses on practical approaches to CAKUT, particularly those with insufficient or abnormal nephron development, such as renal dysplasia, renal hypoplasia, and renal tubular dysgenesis. The review provides insights into the histological features, pathogenesis, mechanisms, etiologies, antenatal and postnatal presentation, management, and prognosis of these anomalies. Differential diagnoses are discussed as several syndromes may include CAKUT as a phenotypic component and renal dysplasia may occur in some ciliopathies, tumor predisposition syndromes, and inborn errors of metabolism. Diagnosis and genetic counseling for CAKUT are challenging, due to the extensive variability in presentation, genetic and phenotypic heterogeneity, and difficulties to assess postnatal lung and renal function on prenatal imaging. The review highlights the importance of perinatal autopsy and pathological findings in surgical specimens to establish the diagnosis and prognosis of CAKUT. The indications and the type of genetic testing are discussed. The aim is to provide essential insights into the practical approaches, diagnostic processes, and genetic considerations offering valuable guidance for pediatric and perinatal pathologists.<\/jats:p>","DOI":"10.1177\/10935266241239241","type":"journal-article","created":{"date-parts":[[2024,9,14]],"date-time":"2024-09-14T01:03:51Z","timestamp":1726275831000},"page":"459-493","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":5,"title":["Practical Approach to Congenital Anomalies of the Kidneys: Focus on Anomalies With Insufficient or Abnormal Nephron Development: Renal Dysplasia, Renal Hypoplasia, and Renal Tubular Dysgenesis"],"prefix":"10.1177","volume":"27","author":[{"given":"Alexia","family":"Gazeu","sequence":"first","affiliation":[{"name":"Department of pathology, H\u00f4pital Femme-M\u00e8re-Enfant, Hospices Civils de Lyon, University Hospital of Lyon, Lyon Bron, France"},{"name":"Universit\u00e9 Claude Bernard Lyon 1, Facult\u00e9 de M\u00e9decine Lyon Est, Lyon, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8604-1089","authenticated-orcid":false,"given":"Sophie","family":"Collardeau-Frachon","sequence":"additional","affiliation":[{"name":"Department of pathology, H\u00f4pital Femme-M\u00e8re-Enfant, Hospices Civils de Lyon, University Hospital of Lyon, Lyon Bron, France"},{"name":"Universit\u00e9 Claude Bernard Lyon 1, Facult\u00e9 de M\u00e9decine Lyon Est, Lyon, France"},{"name":"Soci\u00e9t\u00e9 fran\u00e7aise de F\u0153topathologie, Soffoet, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2024,9,13]]},"reference":[{"key":"bibr1-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1093\/ckj\/sfy112"},{"key":"bibr2-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-023-05899-w"},{"key":"bibr3-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.32006"},{"key":"bibr4-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1172\/JCI95300"},{"key":"bibr5-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.sempedsurg.2022.151232"},{"key":"bibr6-10935266241239241","doi-asserted-by":"publisher","DOI":"10.5858\/arpa.2013-0660-RS"},{"key":"bibr7-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2020.10.021"},{"key":"bibr8-10935266241239241","doi-asserted-by":"publisher","DOI":"10.3109\/15513815.2014.959678"},{"key":"bibr9-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1080\/15513810600788764"},{"key":"bibr10-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.siny.2007.10.009"},{"key":"bibr11-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-017-4006-7"},{"key":"bibr12-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfac207"},{"key":"bibr13-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1148\/radiol.2018181243"},{"key":"bibr14-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-020-04755-5"},{"key":"bibr15-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/jum.15605"},{"key":"bibr16-10935266241239241","doi-asserted-by":"publisher","DOI":"10.3390\/ijms18040796"},{"key":"bibr17-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/wdev.338"},{"key":"bibr18-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s40746-019-00166-3"},{"key":"bibr19-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-021-05420-1"},{"key":"bibr20-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1055\/s-0035-1558423"},{"key":"bibr21-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2017121265"},{"key":"bibr22-10935266241239241","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2019.00136"},{"key":"bibr23-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1186\/s40348-021-00112-0"},{"key":"bibr24-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2021.09.010"},{"key":"bibr25-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2018.08.013"},{"key":"bibr26-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13185"},{"key":"bibr27-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfab218"},{"key":"bibr28-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s10157-020-01977-7"},{"key":"bibr29-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2015050544"},{"key":"bibr30-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-013-2684-4"},{"key":"bibr31-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2015.205"},{"key":"bibr32-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2022.01.028"},{"key":"bibr33-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0281-y"},{"key":"bibr34-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1609009"},{"key":"bibr35-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2014.11.017"},{"key":"bibr36-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-006-0213-4"},{"key":"bibr37-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-994513"},{"key":"bibr38-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2001.0590051663.x"},{"key":"bibr39-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2018070736"},{"key":"bibr40-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-002-0910-6"},{"key":"bibr41-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/ng.581"},{"key":"bibr42-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/s41585-020-0348-2"},{"key":"bibr43-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13624"},{"key":"bibr44-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-410X.1994.tb07463.x"},{"key":"bibr45-10935266241239241","doi-asserted-by":"publisher","DOI":"10.2350\/13-08-1359-OA.1"},{"key":"bibr46-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5669"},{"key":"bibr47-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35206"},{"key":"bibr48-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1620507114"},{"key":"bibr49-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.256"},{"key":"bibr50-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-017-0055-5"},{"key":"bibr51-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/uog.1878"},{"key":"bibr52-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.03.023"},{"key":"bibr53-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37493"},{"key":"bibr54-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1542\/peds.6.5.721"},{"key":"bibr55-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpurol.2021.04.010"},{"key":"bibr56-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1172\/JCI128545"},{"key":"bibr57-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.05.006"},{"key":"bibr58-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.12.002"},{"key":"bibr59-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpurol.2021.01.017"},{"key":"bibr60-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-013-2552-2"},{"key":"bibr61-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1055\/s-0030-1248943"},{"key":"bibr62-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1177\/000992288001900709"},{"key":"bibr63-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30129"},{"key":"bibr64-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.earlhumdev.2018.08.017"},{"key":"bibr65-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.clp.2022.06.002"},{"key":"bibr66-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.arcped.2023.02.005"},{"key":"bibr67-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpurol.2014.03.011"},{"key":"bibr68-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5883"},{"key":"bibr69-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/s41585-022-00563-8"},{"key":"bibr70-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-022-05433-4"},{"key":"bibr71-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.2000.00277.x"},{"key":"bibr72-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-017-3833-y"},{"key":"bibr73-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-017-3812-3"},{"key":"bibr74-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000002637"},{"key":"bibr75-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.juro.2017.06.075"},{"key":"bibr76-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(05)64422-9"},{"key":"bibr77-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000002416"},{"key":"bibr78-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5658"},{"key":"bibr79-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.clp.2022.08.001"},{"key":"bibr80-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6114"},{"key":"bibr81-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-015-3140-4"},{"key":"bibr82-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/s41372-018-0260-2"},{"key":"bibr83-10935266241239241","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2020.00725"},{"key":"bibr84-10935266241239241","doi-asserted-by":"publisher","DOI":"10.3390\/pediatric15010012"},{"key":"bibr85-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2004.04.023"},{"key":"bibr86-10935266241239241","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2020.00546"},{"key":"bibr87-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1053\/j.semnuclmed.2021.12.002"},{"key":"bibr88-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1111\/iju.13915"},{"key":"bibr89-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1148\/rg.2015140223"},{"key":"bibr90-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2009.220"},{"key":"bibr91-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedneo.2011.05.009"},{"key":"bibr92-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1053\/j.ackd.2022.02.006"},{"key":"bibr93-10935266241239241","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.50.9.2047"},{"key":"bibr94-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2014.232"},{"key":"bibr95-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-015-3142-2"},{"key":"bibr96-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-019-0109-9"},{"key":"bibr97-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1093\/ckj\/sfy102"},{"key":"bibr98-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-018-3990-7"},{"key":"bibr99-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.10.004"},{"key":"bibr100-10935266241239241","unstructured":"Bower MA, Schimmenti LA, Eccles MR. PAX2-related disorder. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, Gripp KW, et al., eds. GeneReviews\u00ae. University of Washington, Seattle; 1993. Accessed June 8, 2023. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1451\/"},{"key":"bibr101-10935266241239241","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.10221012"},{"key":"bibr102-10935266241239241","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24044165"},{"key":"bibr103-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-019-04256-0"},{"key":"bibr104-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-020-0741-y"},{"key":"bibr105-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.701"},{"key":"bibr106-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20048"},{"key":"bibr107-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0308475101"},{"key":"bibr108-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21402"},{"key":"bibr109-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-018-0429-8"},{"key":"bibr110-10935266241239241","unstructured":"Smith RJH. Branchiootorenal Spectrum Disorder. 1999 Mar 19 [Updated 2018 Sep 6]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1380\/"},{"key":"bibr111-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38693"},{"key":"bibr112-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24052"},{"key":"bibr113-10935266241239241","unstructured":"Kohlhase J. Townes-brocks syndrome. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, Gripp KW, et al., eds. GeneReviews\u00ae. University of Washington; 1993. Accessed June 8, 2023. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1445\/"},{"key":"bibr114-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23171"},{"key":"bibr115-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-81"},{"key":"bibr116-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-022-02481-6"},{"key":"bibr117-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100590"},{"key":"bibr118-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2013101103"},{"key":"bibr119-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4971"},{"key":"bibr120-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31951"},{"issue":"2","key":"bibr121-10935266241239241","first-page":"22","volume":"2023","author":"Arora S","year":"2023","journal-title":"Endocrinol Diabetes Metab Case Rep"},{"key":"bibr122-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx363"},{"key":"bibr123-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104435"},{"key":"bibr124-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2017010043"},{"key":"bibr125-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.08.013"},{"key":"bibr126-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/ng.86"},{"key":"bibr127-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.09.026"},{"key":"bibr128-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13769"},{"key":"bibr129-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dez126"},{"key":"bibr130-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.09.018"},{"key":"bibr131-10935266241239241","doi-asserted-by":"publisher","DOI":"10.3390\/genes11060687"},{"key":"bibr132-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2012.04.018"},{"key":"bibr133-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.12.017"},{"key":"bibr134-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2020040478"},{"key":"bibr135-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2020121762"},{"key":"bibr136-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.088526"},{"key":"bibr137-10935266241239241","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22179183"},{"key":"bibr138-10935266241239241","volume-title":"GeneReviews((R))","author":"McDonald-McGinn DM","year":"1993"},{"key":"bibr139-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40637"},{"key":"bibr140-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-012-1189-9"},{"key":"bibr141-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31449"},{"key":"bibr142-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfr649"},{"key":"bibr143-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62104"},{"key":"bibr144-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2020.04.045"},{"key":"bibr145-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13557"},{"key":"bibr146-10935266241239241","author":"Houcinat N","journal-title":"Am J Med Genet A"},{"key":"bibr147-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-016-3335-3"},{"key":"bibr148-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2013.417"},{"key":"bibr149-10935266241239241","doi-asserted-by":"crossref","unstructured":"Sanlaville D, Verloes A. CHARGE syndrome: an update. Eur J Hum Genet. 2007;15(4):389-399.","DOI":"10.1038\/sj.ejhg.5201778"},{"key":"bibr150-10935266241239241","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","author":"Spinner NB"},{"key":"bibr151-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.ekir.2016.11.002"},{"key":"bibr152-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-014-1436-2"},{"key":"bibr153-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M116.766824"},{"key":"bibr154-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.151"},{"key":"bibr155-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/ng1363"},{"key":"bibr156-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30445"},{"key":"bibr157-10935266241239241","unstructured":"Cascella M, Muzio MR. Cornelia de Lange Syndrome. [Updated 2023 Jun 4]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan- Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK554584\/"},{"key":"bibr158-10935266241239241","unstructured":"Vega H, Gordillo M, Jabs EW. ESCO2 Spectrum Disorder. 2006 Apr 18 [Updated 2020 Mar 26]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1153\/"},{"key":"bibr159-10935266241239241","first-page":"1993","volume-title":"GeneReviews\u00ae","author":"Slavotinek A","year":"2007"},{"key":"bibr160-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.09.007"},{"key":"bibr161-10935266241239241","first-page":"20301699","volume-title":"GeneReviews\u00ae","author":"Stevens CA","year":"2002"},{"key":"bibr162-10935266241239241","unstructured":"Adam MP, Conta J, Bean LJH. Mowat-Wilson Syndrome. 2007 Mar 28 [Updated 2019 Jul 25]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1412\/"},{"key":"bibr163-10935266241239241","doi-asserted-by":"publisher","DOI":"10.3390\/genes13101761"},{"key":"bibr164-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201010-1697CI"},{"key":"bibr165-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv483"},{"key":"bibr166-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31999"},{"key":"bibr167-10935266241239241","volume-title":"GeneReviews\u00ae","author":"Roberts AE","year":"2001"},{"key":"bibr168-10935266241239241","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2020.00183"},{"key":"bibr169-10935266241239241","doi-asserted-by":"publisher","DOI":"10.3390\/biom9110692"},{"key":"bibr170-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.158418"},{"key":"bibr171-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2015.05.009"},{"key":"bibr172-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu156"},{"key":"bibr173-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-019-04240-8"},{"key":"bibr174-10935266241239241","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S34457"},{"key":"bibr175-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1655-9"},{"key":"bibr176-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23302"},{"key":"bibr177-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.2008"},{"key":"bibr178-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12883"},{"key":"bibr179-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.wneu.2020.03.057"},{"key":"bibr180-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a028191"},{"key":"bibr181-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-018-0047-y"},{"key":"bibr182-10935266241239241","volume-title":"GeneReviews((R))","author":"Stokman M","year":"1993"},{"key":"bibr183-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2018.08.005"},{"key":"bibr184-10935266241239241","doi-asserted-by":"publisher","DOI":"10.15586\/jkcvhl.2020.131"},{"key":"bibr185-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1177\/10935266211040802"},{"key":"bibr186-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38324"},{"key":"bibr187-10935266241239241","doi-asserted-by":"publisher","DOI":"10.3892\/or.2022.8437"},{"key":"bibr188-10935266241239241","volume-title":"GeneReviews((R))","author":"Wieser T","year":"1993"},{"key":"bibr189-10935266241239241","volume-title":"GeneReviews((R))","author":"Prasun P","year":"1993"},{"key":"bibr190-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9937-x"},{"key":"bibr191-10935266241239241","volume-title":"GeneReviews((R))","author":"Steinberg SJ","year":"1993"},{"key":"bibr192-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-007-0536-9"},{"key":"bibr193-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.11.012"},{"key":"bibr194-10935266241239241","unstructured":"Nowaczyk MJM, Wassif CA., Smith-Lemli-Opitz Syndrome. 1998 Nov 13 [updated 2020 Jan 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132024."},{"key":"bibr195-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.12.002"},{"key":"bibr196-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-022-04305-x"},{"key":"bibr197-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4858"},{"key":"bibr198-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/ijgo.14083"},{"key":"bibr199-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-015-3085-7"},{"key":"bibr200-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1159\/000351030"},{"key":"bibr201-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/uog.7664"},{"key":"bibr202-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/uog.20271"},{"key":"bibr203-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpurol.2018.09.018"},{"key":"bibr204-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(01)68227-2"},{"key":"bibr205-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)32466-7"},{"key":"bibr206-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(05)67922-0"},{"key":"bibr207-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2020071002"},{"key":"bibr208-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2015.08.022"},{"key":"bibr209-10935266241239241","doi-asserted-by":"publisher","DOI":"10.3390\/cancers13050997"},{"key":"bibr210-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-023-05907-z"},{"key":"bibr211-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-012-2107-y"},{"key":"bibr212-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2827"},{"key":"bibr213-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-013-2530-8"},{"key":"bibr214-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5536"},{"key":"bibr215-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.euros.2022.08.004"},{"key":"bibr216-10935266241239241","doi-asserted-by":"publisher","DOI":"10.3390\/genes14071490"},{"key":"bibr217-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-021-00983-x"},{"key":"bibr218-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0731-7"},{"key":"bibr219-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-021-02348-2"},{"key":"bibr220-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfx031"},{"key":"bibr221-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006030277"},{"key":"bibr222-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(61)80265-5"},{"key":"bibr223-10935266241239241","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.142.3.467"},{"key":"bibr224-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1097\/PAP.0000000000000269"},{"key":"bibr225-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2013-0009"},{"key":"bibr226-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e3181e35a88"},{"key":"bibr227-10935266241239241","first-page":"47","volume":"26","author":"Broyer M","year":"1997","journal-title":"Adv Nephrol Necker Hosp"},{"key":"bibr228-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/BF00432450"},{"key":"bibr229-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2001.059002457.x"},{"key":"bibr230-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33133"},{"key":"bibr231-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38554"},{"key":"bibr232-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0463.1929.tb06098.x"},{"key":"bibr233-10935266241239241","first-page":"427","volume":"7","author":"Batzenschlager A","year":"1962","journal-title":"Ann Anat Pathol (Paris)"},{"key":"bibr234-10935266241239241","doi-asserted-by":"publisher","DOI":"10.3109\/0886022X.2011.589939"},{"key":"bibr235-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/BF02215984"},{"key":"bibr236-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jhh.1001822"},{"key":"bibr237-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/S0272-6386(99)70245-3"},{"key":"bibr238-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1159\/000166983"},{"key":"bibr239-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/S0344-0338(11)80177-9"},{"key":"bibr240-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-021-05303-5"},{"key":"bibr241-10935266241239241","doi-asserted-by":"publisher","DOI":"10.6064\/2012\/949164"},{"key":"bibr242-10935266241239241","doi-asserted-by":"publisher","DOI":"10.3390\/children9081130"},{"key":"bibr243-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s10024-003-3029-2"},{"key":"bibr244-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-011-1843-8"},{"key":"bibr245-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/s41581-022-00668-8"},{"key":"bibr246-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1093\/ajh\/1.4.335"},{"key":"bibr247-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2012.38"},{"key":"bibr248-10935266241239241","doi-asserted-by":"publisher","DOI":"10.3390\/ijerph18062951"},{"issue":"1","key":"bibr249-10935266241239241","first-page":"3","volume":"136","author":"Low Birth Weight and Nephron Number Working Group","year":"2017","journal-title":"Nephron Clin Pract"},{"key":"bibr250-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-013-2480-1"},{"key":"bibr251-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320160110"},{"key":"bibr252-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1177\/23247096221111775"},{"key":"bibr253-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.ekir.2020.08.011"},{"key":"bibr254-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/ng1623"},{"key":"bibr255-10935266241239241","doi-asserted-by":"publisher","DOI":"10.3109\/15513819509027027"},{"key":"bibr256-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.7.541"},{"key":"bibr257-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.07.024"},{"key":"bibr258-10935266241239241","doi-asserted-by":"publisher","DOI":"10.4322\/acr.2012.031"},{"key":"bibr259-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s10024-001-0206-z"},{"key":"bibr260-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-020-04524-4"},{"key":"bibr261-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2009.423"},{"key":"bibr262-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430512"},{"key":"bibr263-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.prp.2009.06.012"},{"key":"bibr264-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00404-015-3648-7"},{"key":"bibr265-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1920"},{"key":"bibr266-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-013-2616-3"},{"key":"bibr267-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)64767-0"},{"key":"bibr268-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s100249900059"},{"key":"bibr269-10935266241239241","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2020.35.e283"},{"key":"bibr270-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1620\/tjem.252.9"},{"key":"bibr271-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e3181c2df69"},{"key":"bibr272-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/BF00869093"},{"key":"bibr273-10935266241239241","doi-asserted-by":"publisher","DOI":"10.3345\/cep.2020.00752"},{"key":"bibr274-10935266241239241","first-page":"5416936","volume":"2019","author":"Thoeni C","year":"2019","journal-title":"Case Rep Pathol"},{"key":"bibr275-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-008-1035-3"},{"key":"bibr276-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1016\/j.arcped.2007.04.012"},{"key":"bibr277-10935266241239241","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-014-3007-0"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266241239241","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/10935266241239241","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266241239241","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T04:10:43Z","timestamp":1777695043000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/10935266241239241"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9]]},"references-count":277,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["10.1177\/10935266241239241"],"URL":"https:\/\/doi.org\/10.1177\/10935266241239241","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9]]}}}