Associated Papers
Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.
Courcet JB et al.
American Journal of Medical Genetics. Part A, 2015
Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease.
Hao X et al.
Plos One, 2014
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
Rossetti S et al.
Kidney International, 2003
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