Article
Genetic profiling of children with advanced cholestatic liver disease.
Clinical genetics - 1 Jul 2017
Shagrani M, Burkholder J, Broering D, Abouelhoda M, Faquih T, El-Kalioby M, Subhani S N, Goljan E, Albar R, Monies D, Mazhar N, AlAbdulaziz B S, Abdelrahman K A, Altassan N, Alkuraya F S
Abstract excerpt
Advanced cholestatic liver disease is a leading referral to pediatric liver transplant centers. Recent advances in the genetic classification of this group of disorders promise a highly personalized management although the genetic heterogeneity also poses a diagnostic challenge. Using a next-generation sequencing-based multi-gene panel, we performed retrospective analysis of 98 pediatric patients who presented...
Topics
- Adolescent
- Child
- Child, Preschool
- Cholestasis
- Female
- Gene Expression Regulation
- Genetic Predisposition to Disease
- High-Throughput Nucleotide Sequencing
- Humans
- Infant