Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants - Hudson, Rebecca; Patel, Chirag; Hawley, Carmel M.; O’Shea, Stacey; Snelling, Paul; Ho, Gladys; Holman, Katherine; Bennetts, Bruce; Crawford, Joanna; Francis, Leo; Simons, Cas; Mallett, Andrew (American journal of kidney diseases, 2020)
Keywords: adult onset; atypical clinical presentation; autosomal recessive; case report; chronic kidney disease (CKD); diagnosis; genetic heterogeneity; genetic testing; kidney biopsy; mutation; nephrocystin 4 (NPHP4); Nephronophthisis (NPHP); nonsyndromic NPHP; pedigree; phenotypic variability; renal failure; whole-genome sequencing; kidney biopsy; phenotypic variability; adult onset; whole-genome sequencing; diagnosis; case report; nephrocystin 4 (NPHP4); chronic kidney disease (CKD); nonsyndromic NPHP; Nephronophthisis (NPHP); genetic heterogeneity; pedigree; mutation; atypical clinical presentation; genetic testing; renal failure; autosomal recessive