Novel variants in CRB2 targeting the malfunction of slit diaphragm related to focal segmental glomerulosclerosis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Nephrology,Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s00467-023-06087-6.pdf
Reference44 articles.
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4. De Vriese AS, Wetzels JF, Glassock RJ, Sethi S, Fervenza FC (2021) Therapeutic trials in adult FSGS: lessons learned and the road forward. Nat Rev Nephrol 17:619–630. https://doi.org/10.1038/s41581-021-00427-1
5. Weng PL, Majmundar AJ, Khan K, Lim TY, Shril S, Jin G, Musgrove J, Wang M, Ahram DF, Aggarwal VS, Bier LE, Heinzen EL, Onuchic-Whitford AC, Mann N, Buerger F, Schneider R, Deutsch K, Kitzler TM, Klämbt V, Kolb A, Mao Y, Moufawad El Achkar C, Mitrotti A, Martino J, Beck BB, Altmüller J, Benz MR, Yano S, Mikati MA, Gunduz T, Cope H, Shashi V, Trachtman H, Bodria M, Caridi G, Pisani I, Fiaccadori E, AbuMaziad AS, Martinez-Agosto JA, Yadin O, Zuckerman J, Kim A, John-Kroegel U, Tyndall AV, Parboosingh JS, Innes AM, Bierzynska A, Koziell AB, Muorah M, Saleem MA, Hoefele J, Riedhammer KM, Gharavi AG, Jobanputra V, Pierce-Hoffman E, Seaby EG, O’Donnell-Luria A, Rehm HL, Mane S, D’Agati VD, Pollak MR, Ghiggeri GM, Lifton RP, Goldstein DB, Davis EE, Hildebrandt F, Sanna-Cherchi S (2021) De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am J Hum Genet 108:357–367. https://doi.org/10.1016/j.ajhg.2021.01.008
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