BioProject

Four children of a family had died with Hirschsprung disease, gastroesophageal reflux disease, coarse facial features, severe global developmental delay, agenesis of corpus callosum, failure to thrive, and cataract. More...

Four children of a family had died with Hirschsprung disease, gastroesophageal reflux disease, coarse facial features, severe global developmental delay, agenesis of corpus callosum, failure to thrive, and cataract. A transcript-level aberration in EPG5 was detected in RNA-seq data, which showed evidence of homozygous deletions including the exon 1 region of the gene. Less...