A De Novo Splicing Mutation of <i>SRP72</i> in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature

Our study identified a novel classical splicing mutation, marking the first report of BMFS1 in China. This case broadens the spectrum of pathogenic variants associated with the SRP72 gene and expands our understanding of its phenotypic manifestations. It also serves as a typical example for early diagnosis and appropriate treatment of BMFS1.