ESPE Abstracts

Background: Generalized lymphatic anomaly (GLA) is a rare congenital disorder characterized by aggressive proliferation of dilated lymphatic vessels. The etiology of GLA is poorly understood.Objective and hypotheses: To identify the underlying genetic basis for GLA.Method: Exome sequencing (ES) was performed in two families, including a multigenerational family (family-1) with six affected members. RNA-seq was performed on skin bio...

Background and Objectives: In recent years, a growing number of studies investigated the profile of serum metabolomics in health and disease. These studies have led to the discovery of novel biological biomarkers and causative agents for a variety of medical conditions. Here, we focused on profiling serum metabolites of children diagnosed with growth hormone deficiency (GHD).Methods: We conducted a prospective study and ...