Associated Papers
Prenatal diagnosis and molecular characterization of PKHD1 variants in two Chinese fetuses with Caroli disease/syndrome.
Huang H et al.
Frontiers in Genetics, 2025
Nationwide, Couple-Based Genetic Carrier Screening.
Kirk EP et al.
The New England Journal of Medicine, 2024
39565987 (PubMed )
Supplement: nejmoa2314768_appendix.pdf
Minigene-based splice assays provide new insights on intronic variants of the PKHD1 gene.
Zhang Y et al.
Human Genomics, 2024
39521997 (PubMed )
Supplement: 40246_2024_675_MOESM1_ESM.xlsx › Table_S1.1
Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease.
Hao X et al.
Plos One, 2014
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Gunay-Aygun M et al.
Molecular Genetics and Metabolism, 2010
Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis.
Sgro M et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2004
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