Article
Mutations in Myosin 5B in Children With Early-onset Cholestasis.
Journal of pediatric gastroenterology and nutrition - 1 Aug 2020
Cockar Iram, Foskett Pierre, Strautnieks Sandra, Clinch Yasmin, Fustok Jana, Rahman Obydur, Sutton Harry, Mtegha Marumbo, Fessatou Smaragdi, Kontaki Elena, Papaevangelou Vassiliki, Deheragoda Maesha, Thompson Richard J, Grammatikopoulos Tassos
Abstract excerpt
OBJECTIVES: Mutations in Myosin 5B (MYO5B) are known to be associated with microvillous inclusion disease (MVID) a genetic cause of neonatal intractable diarrhoea. More recently, they have been reported in children with cholestasis but without typical gastrointestinal symptoms of MVID. We describe our series of children with cholestasis and mutations in MYO5B. METHODS: Clinical, laboratory, and histological data...
Topics
Join the communities discussing this publication.