Publications by Hugo Lemoine

Publications by authors named "Hugo Lemoine"

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

Hugo Lemoine Loann Raud François Foulquier John A Sayer Baptiste Lambert Sandrine Lemoine

Am J Hum Genet

August 2022

Disorders of the autosomal dominant polycystic kidney disease (ADPKD) spectrum are characterized by the development of kidney cysts and progressive kidney function decline. PKD1 and PKD2, encoding polycystin (PC)1 and 2, are the two major genes associated with ADPKD; other genes include IFT140, GANAB, DNAJB11, and ALG9. Genetic testing remains inconclusive in ∼7% of the families.

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