Associated Papers
Renal-hepatic-pancreatic dysplasia type 2: Perinatal lethal condition or a multisystemic disorder with variable expressivity.
Gunther K et al.
Molecular Genetics & Genomic Medicine, 2023
Homozygous NEK8 Mutations in Siblings With Neonatal Cholestasis Progressing to End-stage Liver, Renal, and Cardiac Disease.
Hassan S et al.
Journal of Pediatric Gastroenterology and Nutrition, 2020
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
Grampa V et al.
Plos Genetics, 2016
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