Condition: Papillorenal syndrome
rs104894170 in
PAX2 gene and
Papillorenal syndrome
PMID 24676634 2014 Mutations in PAX2 associate with adult-onset FSGS.
PMID 9760197 1998 Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).
PMID 19954729 2009 A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation.
PMID 22213154 2012 Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
PMID 11168927 2001 PAX2 mutations in oligomeganephronia.
PMID 15652857 2005 Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation.
PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
PMID 21326282 2011 Clinical utility gene card for: renal coloboma (Papillorenal) syndrome.