This section considers studies of genetic and congenital disorders in children and adolescents.
Chylomicron retention disease caused by a new pathogenic variant in sar1b protein: a rare case report from Syria
Chylomicron retention disease (Anderson disease) is a result for variant of the SAR1B gene. It is a rare autosomal recessive hereditary disorder with most incidence in infant. It is characterized by lipid mala...
Citation: BMC Pediatrics 2021 21:449