IMPE Abstracts

Context: MIRAGE syndrome (OMIM #617053) is a multiorgan disorder including hypoplasia of the adrenal glands and gonads (Narumi S et al., Nat Genet 2016). The syndrome is caused by heterozygous pathogenic SAMD9 variants with potent growth-inhibitory activity. There is no effective treatment for the syndrome, and approximately 40% of documented cases die before age 3.Objective: We aimed to establish a screening me...