Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis

Lemoine, H; Raud, L; Foulquier, F; Sayer, JA; Lambert, B; Olinger, E; Lefevre, S; Knebelmann, B; Harris, PC; Trouve, P; Despres, A; Duneau, G; Matignon, M; Poyet, A; Jourde-Chiche, N; Guerrot, D; Lemoine, S; Seret, G; Barroso-Gil, M; Bingham, C; Gilbert, R; Le Meur, Y; Audrezet, MP; Cornec-Le Gall, E

Cornec-Le Gall, E (通讯作者)，Univ Brest, INSERM, UMR 1078, GGB, F-29200 Brest, France.;Cornec-Le Gall, E (通讯作者)，CHRU Brest, Serv Nephrol Hemodialyse & Transplantat Renale, F-29609 Brest, France.

AMERICAN JOURNAL OF HUMAN GENETICS, 2022; 109 (8): 1484

Abstract

Disorders of the autosomal dominant polycystic kidney disease (ADPKD) spectrum are characterized by the development of kidney cysts and progressive ki......

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