Condition: NEPHRONOPHTHISIS 2


rs121964995 in INVS gene and NEPHRONOPHTHISIS 2 PMID 12872123 2003 Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.

PMID 20798123 2010 A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway.

PMID 19177160 2009 Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.

PMID 23559409 2013 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

PMID 18076122 2008 Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.

PMID 21866095 2011 Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.