Disease: Renal dysplasia diffuse autsmal recessive
- A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs
- Bile duct dysplasia and congenital hepatic fibrosis associated with polycystic kidney (Caroli syndrome) in a rat
- Bladder Agenesis and Bilateral Ectopic Ureters in an Infant Male With Cystic Renal Dysplasia, Imperforate Anus, and Penoscrotal Transposition
- Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation
- CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation
- Clinical features of Bardet-Biedl syndrome with renal abnormalities as initial manifestations
- Contribution of apoptosis and apoptosis-related proteins to the malformation of the primitive intrahepatic biliary system in Meckel syndrome
- Diffuse renal cystic disease in children: morphologic and genetic correlations
- Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports
- Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia
- Expression of nuclear transcription factor PAX2 in renal biopsies of juvenile nephronophthisis
- Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency
- Renal polycystosis in pediatrics
- Ultrasound Imaging of Renal Cysts in Children
- US of renal insufficiency in neonates