{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T07:08:14Z","timestamp":1792393694788,"version":"4.4.0"},"reference-count":45,"publisher":"Springer Science and Business Media LLC","license":[{"start":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T00:00:00Z","timestamp":1769644800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T00:00:00Z","timestamp":1769644800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"DOI":"10.1007\/s00467-026-07162-4","type":"journal-article","created":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T18:48:00Z","timestamp":1769712480000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Consanguinity-linked genetic variants in Algerian patients with steroid-resistant nephrotic syndrome: a familial study"],"prefix":"10.1007","author":[{"given":"Liela","family":"Azouaou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8277-1957","authenticated-orcid":false,"given":"Mounir","family":"Adnane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed","family":"Benabadji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lamia","family":"Oukrif","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdellatif","family":"Bensnouci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,1,29]]},"reference":[{"key":"7162_CR1","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1097\/00008480-199304000-00007","volume":"5","author":"P Niaudet","year":"1993","unstructured":"Niaudet P (1993) Nephrotic syndrome in children. Curr Opin Pediatr 5:174\u2013179. https:\/\/doi.org\/10.1097\/00008480-199304000-00007","journal-title":"Curr Opin Pediatr"},{"issue":"5","key":"7162_CR2","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1016\/j.nephro.2018.07.208","volume":"14","author":"A Servais","year":"2018","unstructured":"Servais A, Gribouval O, Boyer O, Hummel A, Dantal J, Martinez F, Sberro-Soussan R, Chauveau D, Delahousse M, Antignac C (2018) Syndrome n\u00e9phrotique corticor\u00e9sistant de l\u2019adulte\u202f: doit-on chercher une cause g\u00e9n\u00e9tique\u202f? Nephrol Ther 14:342. https:\/\/doi.org\/10.1016\/j.nephro.2018.07.208","journal-title":"Nephrol Ther"},{"key":"7162_CR3","doi-asserted-by":"publisher","unstructured":"(1978) Nephrotic syndrome in children: prediction of histopathology from clinical and laboratory characteristics at time of diagnosis. A report of the International Study of Kidney Disease in Children. Kidney Int 13:159\u2013165. https:\/\/doi.org\/10.1038\/ki.1978.23","DOI":"10.1038\/ki.1978.23"},{"key":"7162_CR4","doi-asserted-by":"publisher","first-page":"29","DOI":"10.2147\/PHMT.S100803","volume":"8","author":"N Nourbakhsh","year":"2017","unstructured":"Nourbakhsh N, Mak RH (2017) Steroid-resistant nephrotic syndrome: past and current perspectives. Pediatr Health Med Ther 8:29\u201337. https:\/\/doi.org\/10.2147\/PHMT.S100803","journal-title":"Pediatr Health Med Ther"},{"key":"7162_CR5","doi-asserted-by":"publisher","first-page":"1123","DOI":"10.1093\/ndt\/gfac314","volume":"38","author":"O Boyer","year":"2023","unstructured":"Boyer O, Trautmann A, Haffner D, Vivarelli M (2023) Steroid-sensitive nephrotic syndrome in children. Nephrol Dial Transplant 38:1123\u20131126. https:\/\/doi.org\/10.1093\/ndt\/gfac314","journal-title":"Nephrol Dial Transplant"},{"key":"7162_CR6","doi-asserted-by":"publisher","first-page":"1529","DOI":"10.1038\/ng.3933","volume":"49","author":"DA Braun","year":"2017","unstructured":"Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch\u2019ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F (2017) Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet 49:1529\u20131538. https:\/\/doi.org\/10.1038\/ng.3933","journal-title":"Nat Genet"},{"key":"7162_CR7","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-017-0968-8","volume":"17","author":"S Liu","year":"2017","unstructured":"Liu S, Zhang M, Ni M, Zhu P, Xia X (2017) A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report. BMC Pediatr 17:217. https:\/\/doi.org\/10.1186\/s12887-017-0968-8","journal-title":"BMC Pediatr"},{"key":"7162_CR8","doi-asserted-by":"publisher","first-page":"1181","DOI":"10.1007\/s00467-017-3590-y","volume":"32","author":"F Wang","year":"2017","unstructured":"Wang F, Zhang Y, Mao J, Yu Z, Yi Z, Yu L, Sun J, Wei X, Ding F, Zhang H, Xiao H, Yao Y, Tan W, Lovric S, Ding J, Hildebrandt F (2017) Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. Pediatr Nephrol 32:1181\u20131192. https:\/\/doi.org\/10.1007\/s00467-017-3590-y","journal-title":"Pediatr Nephrol"},{"key":"7162_CR9","doi-asserted-by":"publisher","first-page":"7962","DOI":"10.1073\/pnas.96.14.7962","volume":"96","author":"V Ruotsalainen","year":"1999","unstructured":"Ruotsalainen V, Ljungberg P, Wartiovaara J, Lenkkeri U, Kestil\u00e4 M, Jalanko H, Holmberg C, Tryggvason K (1999) Nephrin is specifically located at the slit diaphragm of glomerular podocytes. Proc Natl Acad Sci USA 96:7962\u20137967","journal-title":"Proc Natl Acad Sci USA"},{"key":"7162_CR10","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1007\/s12539-014-0190-4","volume":"6","author":"A Tabassum","year":"2014","unstructured":"Tabassum A, Rajeshwari T, Soni N, Raju DS, Yadav M, Nayarisseri A, Jahan P (2014) Structural characterization and mutational assessment of podocin - a novel drug target to nephrotic syndrome - an in silico approach. Interdiscip Sci 6:32\u201339. https:\/\/doi.org\/10.1007\/s12539-014-0190-4","journal-title":"Interdiscip Sci"},{"key":"7162_CR11","doi-asserted-by":"publisher","first-page":"2121","DOI":"10.1007\/s00467-007-0633-9","volume":"24","author":"H Jalanko","year":"2009","unstructured":"Jalanko H (2009) Congenital nephrotic syndrome. Pediatr Nephrol 24:2121\u20132128. https:\/\/doi.org\/10.1007\/s00467-007-0633-9","journal-title":"Pediatr Nephrol"},{"key":"7162_CR12","doi-asserted-by":"crossref","unstructured":"Jalanko H, K\u00e4\u00e4ri\u00e4inen H (2023) Nephrotic Disorders. In: Pyeritz RE, Korf BR, Grody WW (eds) Emery and Rimoin\u2019s Principles and Practice of Medical Genetics and Genomics. Academic Press, pp 95\u2013113","DOI":"10.1016\/B978-0-12-812534-2.00004-7"},{"key":"7162_CR13","doi-asserted-by":"publisher","first-page":"937","DOI":"10.1016\/j.kint.2016.10.013","volume":"91","author":"A Bierzynska","year":"2017","unstructured":"Bierzynska A, McCarthy HJ, Soderquest K, Sen ES, Colby E, Ding WY, Nabhan MM, Kerecuk L, Hegde S, Hughes D, Marks S, Feather S, Jones C, Webb NJ, Ognjanovic M, Christian M, Gilbert RD, Sinha MD, Lord GM, Simpson M, Koziell AB, Welsh GI, Saleem MA (2017) Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. Kidney Int 91:937\u2013947. https:\/\/doi.org\/10.1016\/j.kint.2016.10.013","journal-title":"Kidney Int"},{"key":"7162_CR14","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1007\/s00467-017-3838-6","volume":"34","author":"R Preston","year":"2019","unstructured":"Preston R, Stuart HM, Lennon R (2019) Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how? Pediatr Nephrol 34:195\u2013210. https:\/\/doi.org\/10.1007\/s00467-017-3838-6","journal-title":"Pediatr Nephrol"},{"key":"7162_CR15","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1080\/20469047.2017.1374003","volume":"37","author":"ML Downie","year":"2017","unstructured":"Downie ML, Gallibois C, Parekh RS, Noone DG (2017) Nephrotic syndrome in infants and children: pathophysiology and management. Paediatr Int Child Health 37:248\u2013258. https:\/\/doi.org\/10.1080\/20469047.2017.1374003","journal-title":"Paediatr Int Child Health"},{"key":"7162_CR16","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1016\/j.perped.2023.04.008","volume":"6","author":"O Boyer","year":"2023","unstructured":"Boyer O, Dorval G (2023) Le syndrome n\u00e9phrotique de l\u2019enfant\u202f: quoi de neuf en 2023? Perfectionnement en P\u00e9diatrie 6:98\u2013106. https:\/\/doi.org\/10.1016\/j.perped.2023.04.008","journal-title":"Perfectionnement en P\u00e9diatrie"},{"key":"7162_CR17","doi-asserted-by":"publisher","first-page":"243","DOI":"10.4103\/0971-4065.114462","volume":"23","author":"SK Agarwal","year":"2013","unstructured":"Agarwal SK, Sethi S, Dinda AK (2013) Basics of kidney biopsy: a nephrologist\u2019s perspective. Indian J Nephrol 23:243\u2013252. https:\/\/doi.org\/10.4103\/0971-4065.114462","journal-title":"Indian J Nephrol"},{"key":"7162_CR18","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1007\/s00467-017-3819-9","volume":"33","author":"G Dorval","year":"2018","unstructured":"Dorval G, Gribouval O, Martinez-Barquero V, Machuca E, Tete MJ, Baudouin V, Benoit S, Chabchoub I, Champion G, Chauveau D, Chehade H, Chouchane C, Cloarec S, Cochat P, Dahan K, Dantal J, Delmas Y, Deschenes G, Dolhem P, Durand D, Ekinci Z, El Karoui K, Fischbach M, Grunfeld JP, Guigonis V, Hachicha M, Hogan J, Hourmant M, Hummel A, Kamar N, Krummel T, Lacombe D, Llanas B, Mesnard L, Mohsin N, Niaudet P, Nivet H, Parvex P, Pietrement C, de Pontual L, Noble CP, Ribes D, Ronco P, Rondeau E, Sallee M, Tsimaratos M, Ulinski T, Salomon R, Antignac C, Boyer O (2018) Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome. Pediatr Nephrol 33:473\u2013483. https:\/\/doi.org\/10.1007\/s00467-017-3819-9","journal-title":"Pediatr Nephrol"},{"key":"7162_CR19","doi-asserted-by":"publisher","first-page":"1279","DOI":"10.1681\/ASN.2014050489","volume":"26","author":"CE Sadowski","year":"2015","unstructured":"Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA, Group SS, Hildebrandt F (2015) A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol 26:1279\u20131289. https:\/\/doi.org\/10.1681\/ASN.2014050489","journal-title":"J Am Soc Nephrol"},{"key":"7162_CR20","doi-asserted-by":"publisher","first-page":"458","DOI":"10.1093\/ndt\/gfy015","volume":"34","author":"S Berody","year":"2019","unstructured":"Berody S, Heidet L, Gribouval O, Harambat J, Niaudet P, Baudouin V, Bacchetta J, Boudaillez B, Dehennault M, de Parscau L, Dunand O, Flodrops H, Fila M, Garnier A, Louillet F, Macher MA, May A, Merieau E, Monceaux F, Pietrement C, Rousset-Rouviere C, Roussey G, Taque S, Tenenbaum J, Ulinski T, Vieux R, Zaloszyc A, Moriniere V, Salomon R, Boyer O (2019) Treatment and outcome of congenital nephrotic syndrome. Nephrol Dial Transplant 34:458\u2013467. https:\/\/doi.org\/10.1093\/ndt\/gfy015","journal-title":"Nephrol Dial Transplant"},{"key":"7162_CR21","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1038\/nmeth.2890","volume":"11","author":"JM Schwarz","year":"2014","unstructured":"Schwarz JM, Cooper DN, Schuelke M, Seelow D (2014) Mutationtaster2: mutation prediction for the deep-sequencing age. Nat Methods 11:361\u2013362. https:\/\/doi.org\/10.1038\/nmeth.2890","journal-title":"Nat Methods"},{"key":"7162_CR22","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1016\/0307-4412(83)90068-7","volume":"11","author":"EJ Wood","year":"1983","unstructured":"Wood EJ (1983) Molecular cloning. A laboratory manual. Biochem Educ 11:82\u201382. https:\/\/doi.org\/10.1016\/0307-4412(83)90068-7","journal-title":"Biochem Educ"},{"key":"7162_CR23","doi-asserted-by":"crossref","unstructured":"Sharma R, Sharad S, Minhas G, Sharma DR, Bhatia K, Sharma NK (2023) DNA, RNA isolation, primer designing, sequence submission, and phylogenetic analysis. In: Bhatt AK, Bhatia RK, Bhalla TC (eds) Basic Biotechniques for Bioprocess and Bioentrepreneurship. Academic Press, pp 197\u2013206","DOI":"10.1016\/B978-0-12-816109-8.00012-X"},{"key":"7162_CR24","doi-asserted-by":"publisher","first-page":"5463","DOI":"10.1073\/pnas.74.12.5463","volume":"74","author":"F Sanger","year":"1977","unstructured":"Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A 74:5463\u20135467. https:\/\/doi.org\/10.1073\/pnas.74.12.5463","journal-title":"Proc Natl Acad Sci U S A"},{"key":"7162_CR25","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-57149-5","volume":"10","author":"C Nagano","year":"2020","unstructured":"Nagano C, Yamamura T, Horinouchi T, Aoto Y, Ishiko S, Sakakibara N, Shima Y, Nakanishi K, Nagase H, Iijima K, Nozu K (2020) Comprehensive genetic diagnosis of Japanese patients with severe proteinuria. Sci Rep 10:270. https:\/\/doi.org\/10.1038\/s41598-019-57149-5","journal-title":"Sci Rep"},{"key":"7162_CR26","doi-asserted-by":"publisher","first-page":"648","DOI":"10.1093\/ndt\/gfaa221","volume":"37","author":"G Dorval","year":"2022","unstructured":"Dorval G, Servais A, Boyer O (2022) The genetics of steroid-resistant nephrotic syndrome in children. Nephrol Dial Transplant 37:648\u2013651. https:\/\/doi.org\/10.1093\/ndt\/gfaa221","journal-title":"Nephrol Dial Transplant"},{"key":"7162_CR27","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1080\/20469047.2017.1374002","volume":"37","author":"WA Olowu","year":"2017","unstructured":"Olowu WA, Ademola A, Ajite AB, Saad YM (2017) Childhood nephrotic syndrome in tropical Africa: then and now. Paediatr Int Child Health 37:259\u2013268. https:\/\/doi.org\/10.1080\/20469047.2017.1374002","journal-title":"Paediatr Int Child Health"},{"key":"7162_CR28","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2016.00039","volume":"4","author":"R Chanchlani","year":"2016","unstructured":"Chanchlani R, Parekh RS (2016) Ethnic differences in childhood nephrotic syndrome. Front Pediatr 4:39. https:\/\/doi.org\/10.3389\/fped.2016.00039","journal-title":"Front Pediatr"},{"key":"7162_CR29","doi-asserted-by":"publisher","first-page":"1013","DOI":"10.1016\/j.kint.2018.07.024","volume":"94","author":"O Gribouval","year":"2018","unstructured":"Gribouval O, Boyer O, Hummel A, Dantal J, Martinez F, Sberro-Soussan R, Etienne I, Chauveau D, Delahousse M, Lionet A, Allard J, Pouteil Noble C, Tete MJ, Heidet L, Antignac C, Servais A (2018) Identification of genetic causes for sporadic steroid-resistant nephrotic syndrome in adults. Kidney Int 94:1013\u20131022. https:\/\/doi.org\/10.1016\/j.kint.2018.07.024","journal-title":"Kidney Int"},{"key":"7162_CR30","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1007\/s00467-010-1694-8","volume":"26","author":"IB Mbarek","year":"2011","unstructured":"Mbarek IB, Abroug S, Omezzine A, Pawtowski A, Gubler MC, Bouslama A, Harbi A, Antignac C (2011) Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children. Pediatr Nephrol 26:241\u2013249. https:\/\/doi.org\/10.1007\/s00467-010-1694-8","journal-title":"Pediatr Nephrol"},{"key":"7162_CR31","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1007\/s00467-007-0640-x","volume":"23","author":"M Nakayama","year":"2008","unstructured":"Nakayama M, Kamei K, Nozu K, Matsuoka K, Nakagawa A, Sako M, Iijima K (2008) Rituximab for refractory focal segmental glomerulosclerosis. Pediatr Nephrol 23:481\u2013485. https:\/\/doi.org\/10.1007\/s00467-007-0640-x","journal-title":"Pediatr Nephrol"},{"key":"7162_CR32","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1007\/s00467-008-1051-3","volume":"25","author":"G Caridi","year":"2010","unstructured":"Caridi G, Trivelli A, Sanna-Cherchi S, Perfumo F, Ghiggeri GM (2010) Familial forms of nephrotic syndrome. Pediatr Nephrol 25:241\u2013252. https:\/\/doi.org\/10.1007\/s00467-008-1051-3","journal-title":"Pediatr Nephrol"},{"key":"7162_CR33","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1002\/humu.22485","volume":"35","author":"K Bouchireb","year":"2014","unstructured":"Bouchireb K, Boyer O, Gribouval O, Nevo F, Huynh-Cong E, Moriniere V, Campait R, Ars E, Brackman D, Dantal J (2014) NPHS 2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. Hum Mutat 35:178\u2013186","journal-title":"Hum Mutat"},{"key":"7162_CR34","doi-asserted-by":"publisher","first-page":"795","DOI":"10.1136\/jmedgenet-2017-104811","volume":"54","author":"ES Sen","year":"2017","unstructured":"Sen ES, Dean P, Yarram-Smith L, Bierzynska A, Woodward G, Buxton C, Dennis G, Welsh GI, Williams M, Saleem MA (2017) Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations. J Med Genet 54:795\u2013804. https:\/\/doi.org\/10.1136\/jmedgenet-2017-104811","journal-title":"J Med Genet"},{"key":"7162_CR35","doi-asserted-by":"publisher","first-page":"1397","DOI":"10.1038\/ng1918","volume":"38","author":"B Hinkes","year":"2006","unstructured":"Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, N\u00fcrnberg G, Garg P, Verma R, Chaib H, Hoskins BE (2006) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet 38:1397\u20131405","journal-title":"Nat Genet"},{"key":"7162_CR36","doi-asserted-by":"publisher","first-page":"1144","DOI":"10.1007\/s10753-023-01808-3","volume":"46","author":"U Saqib","year":"2023","unstructured":"Saqib U, Munjuluri S, Sarkar S, Biswas S, Mukherjee O, Satsangi H, Baig MS, Obukhov AG, Hajela K (2023) Transient receptor potential canonical 6 (TRPC6) channel in the pathogenesis of diseases: a jack of many trades. Inflammation 46:1144\u20131160. https:\/\/doi.org\/10.1007\/s10753-023-01808-3","journal-title":"Inflammation"},{"key":"7162_CR37","doi-asserted-by":"crossref","unstructured":"Polu KR, Pollak MR (2009) Focal Segmental Glomerulosclerosis. In: Lifton RP, Somlo S, Giebisch GH, Seldin DW (eds) Genetic Diseases of the Kidney. Academic Press, San Diego, pp 113\u2013127","DOI":"10.1016\/B978-0-12-449851-8.00006-1"},{"key":"7162_CR38","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8794-7-20","volume":"7","author":"MD Linderman","year":"2014","unstructured":"Linderman MD, Brandt T, Edelmann L, Jabado O, Kasai Y, Kornreich R, Mahajan M, Shah H, Kasarskis A, Schadt EE (2014) Analytical validation of whole exome and whole genome sequencing for clinical applications. BMC Med Genomics 7:20. https:\/\/doi.org\/10.1186\/1755-8794-7-20","journal-title":"BMC Med Genomics"},{"key":"7162_CR39","doi-asserted-by":"publisher","DOI":"10.1186\/s42522-020-0010-1","volume":"2","author":"L Uelze","year":"2020","unstructured":"Uelze L, Grutzke J, Borowiak M, Hammerl JA, Juraschek K, Deneke C, Tausch SH, Malorny B (2020) Typing methods based on whole genome sequencing data. One Health Outlook 2:3. https:\/\/doi.org\/10.1186\/s42522-020-0010-1","journal-title":"One Health Outlook"},{"key":"7162_CR40","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1186\/s12887-016-0583-0","volume":"16","author":"L Qiu","year":"2016","unstructured":"Qiu L, Zhou J (2016) Simultaneous mutations of LAMB2 and NPHP1 genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report. BMC Pediatr 16:44. https:\/\/doi.org\/10.1186\/s12887-016-0583-0","journal-title":"BMC Pediatr"},{"key":"7162_CR41","doi-asserted-by":"publisher","first-page":"2013","DOI":"10.1172\/JCI45693","volume":"121","author":"SF Heeringa","year":"2011","unstructured":"Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, McLaughlin HM, Airik R, Vlangos CN, Gbadegesin R, Hinkes B, Saisawat P, Trevisson E, Doimo M, Casarin A, Pertegato V, Giorgi G, Prokisch H, Rotig A, Nurnberg G, Becker C, Wang S, Ozaltin F, Topaloglu R, Bakkaloglu A, Bakkaloglu SA, Muller D, Beissert A, Mir S, Berdeli A, Varpizen S, Zenker M, Matejas V, Santos-Ocana C, Navas P, Kusakabe T, Kispert A, Akman S, Soliman NA, Krick S, Mundel P, Reiser J, Nurnberg P, Clarke CF, Wiggins RC, Faul C, Hildebrandt F (2011) COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest 121:2013\u20132024. https:\/\/doi.org\/10.1172\/JCI45693","journal-title":"J Clin Invest"},{"key":"7162_CR42","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1086\/500092","volume":"78","author":"C Quinzii","year":"2006","unstructured":"Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, Hirano M (2006) A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet 78:345\u2013349. https:\/\/doi.org\/10.1086\/500092","journal-title":"Am J Hum Genet"},{"key":"7162_CR43","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1016\/j.ajhg.2014.10.011","volume":"95","author":"E Colin","year":"2014","unstructured":"Colin E, Huynh Cong E, Mollet G, Guichet A, Gribouval O, Arrondel C, Boyer O, Daniel L, Gubler MC, Ekinci Z, Tsimaratos M, Chabrol B, Boddaert N, Verloes A, Chevrollier A, Gueguen N, Desquiret-Dumas V, Ferre M, Procaccio V, Richard L, Funalot B, Moncla A, Bonneau D, Antignac C (2014) Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. Am J Hum Genet 95:637\u2013648. https:\/\/doi.org\/10.1016\/j.ajhg.2014.10.011","journal-title":"Am J Hum Genet"},{"key":"7162_CR44","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1186\/s12882-022-03000-5","volume":"24","author":"Y Chen","year":"2023","unstructured":"Chen Y, Yang Y, Yang Y, Rao J, Bai H (2023) Diagnosis delay a family of Galloway-Mowat syndrome caused by a classical splicing mutation of Lage3. BMC Nephrol 24:29. https:\/\/doi.org\/10.1186\/s12882-022-03000-5","journal-title":"BMC Nephrol"},{"key":"7162_CR45","doi-asserted-by":"publisher","DOI":"10.1016\/j.gep.2021.119215","volume":"42","author":"E Treimer","year":"2021","unstructured":"Treimer E, Niedermayer K, Schumann S, Zenker M, Schmeisser MJ, Kuhl SJ (2021) Galloway-mowat syndrome: new insights from bioinformatics and expression during Xenopus embryogenesis. Gene Expr Patterns 42:119215. https:\/\/doi.org\/10.1016\/j.gep.2021.119215","journal-title":"Gene Expr Patterns"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-026-07162-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00467-026-07162-4","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-026-07162-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T18:48:02Z","timestamp":1769712482000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00467-026-07162-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,29]]},"references-count":45,"alternative-id":["7162"],"URL":"https:\/\/doi.org\/10.1007\/s00467-026-07162-4","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,29]]},"assertion":[{"value":"19 April 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 January 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 January 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 January 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}