Challenges in establishing genotype–phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations

[1] Harris PC(2009)Polycystic kidney disease Annu Rev Med 60 321-337

[2] Torres VE(2014)Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects Pediatrics 134 e833-e845

[3] Hartung EA(2014)Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference J Pediatr 165 611-617

[4] Guay-Woodford LM(2002)The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein Nat Genet 30 259-269

[5] Guay-Woodford LM(2005)Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD) Kidney Int 67 829-848

[6] Bissler JJ(2014)Transcriptional complexity in autosomal recessive polycystic kidney disease Clin J Am Soc Nephrol 9 1729-1736

[7] Braun MC(2002)Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene J Am Soc Nephrol 13 2246-2258

[8] Bockenhauer D(2002)PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats Am J Hum Genet 70 1305-1317

[9] Cadnapaphornchai MA(2010)Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease Kidney Int 77 350-358

[10] Dell KM(2003)Autosomal recessive polycystic kidney disease: the clinical experience in North America Pediatrics 111 1072-1080

[1] Harris PC(2009)Polycystic kidney disease Annu Rev Med 60 321-337

[2] Torres VE(2014)Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects Pediatrics 134 e833-e845

[3] Hartung EA(2014)Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference J Pediatr 165 611-617

[4] Guay-Woodford LM(2002)The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein Nat Genet 30 259-269

[5] Guay-Woodford LM(2005)Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD) Kidney Int 67 829-848

[6] Bissler JJ(2014)Transcriptional complexity in autosomal recessive polycystic kidney disease Clin J Am Soc Nephrol 9 1729-1736

[7] Braun MC(2002)Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene J Am Soc Nephrol 13 2246-2258

[8] Bockenhauer D(2002)PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats Am J Hum Genet 70 1305-1317

[9] Cadnapaphornchai MA(2010)Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease Kidney Int 77 350-358

[10] Dell KM(2003)Autosomal recessive polycystic kidney disease: the clinical experience in North America Pediatrics 111 1072-1080