Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia
Pénélope Jordan, Christelle Arrondel, Bettina Bessières, Aude Tessier, Tania Attié‐Bitach, Sarah Guterman, Vincent Morinière, Corinne Antignac, Sophie Saunier, Marie-Claire Gübler, Laurence Heidet
Topics & Concepts
NephronophthisisCiliopathiesAutosomal Recessive Polycystic Kidney DiseaseCystic kidney diseaseCiliumTamm–Horsfall proteinCongenital hepatic fibrosisCiliopathyPathologyKidneyPolycystic kidney diseaseMedicineAutosomal dominant polycystic kidney diseaseKidney diseaseCystic fibrosisAlleleBiologyDiseaseInternal medicinePortal hypertensionGeneticsCirrhosisPhenotypeGeneGenetic and Kidney Cyst DiseasesRenal and related cancersPediatric Urology and Nephrology Studies