Associated Papers
Novel findings from family-based exome sequencing for children with biliary atresia.
Tran KT et al.
Scientific Reports, 2021
Early presentation of cystic kidneys in a family with a homozygous INVS mutation.
Oud MM et al.
American Journal of Medical Genetics. Part A, 2014
A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway.
Bellavia S et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.
Tory K et al.
Kidney International, 2009
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.
Otto EA et al.
Nature Genetics, 2003
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