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Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium; Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F. Halbritter J, et al. Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17. Am J Hum Genet. 2013. PMID: 24140113 Free PMC article.
Case Report: Cystinuria and Polycystic Kidney Disease.
Sidhu A, Mittal A, Negroni-Balasquide X, Constantinescu A, Kozakowski K. Sidhu A, et al. Pediatrics. 2016 Dec;138(6):e20160674. doi: 10.1542/peds.2016-0674. Epub 2016 Nov 15. Pediatrics. 2016. PMID: 27940671 Review.
Clinical presentation and management of nephrotic syndrome in the first year of life: A report from the Pediatric Nephrology Research Consortium.
Constantinescu AR, Mattoo TK, Smoyer WE, Greenbaum LA, Niu J, Howard N, Muff-Luett M, Benoit EB, Traum A, Annaim AA, Wenderfer SE, Plautz E, Rheault MN, Myette RL, Twombley KE, Kamigaki Y, Wandique-Rapalo B, Kallash M, Vasylyeva TL. Constantinescu AR, et al. Front Pediatr. 2022 Sep 14;10:988945. doi: 10.3389/fped.2022.988945. eCollection 2022. Front Pediatr. 2022. PMID: 36210940 Free PMC article.
23 results