Additional file 1: of Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review

Abstract

Methods – Description of Quantitative magnetization transfer (MT) imaging, proton MR-spectroscopy, Whole exome analysis, RNA isolation and cDNA synthesis. (DOCX 19 kb