Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations

摘要

Background Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes and enteropathy (MIRAGE) syndrome is a recently described congenital disorder caused by heterozygous SAMD9 mutations. The phenotypic spectrum of the syndrome remains to be elucidated.