Diagnostic peripheral blood smear for Chédiak-Higashi syndrome in a 43-month-old boy, confirmed by sequencing No … ← Diagnostic peripheral blood smear for Chédiak-Higashi syndrome in a 43-month-old boy, confirmed by sequencing Lee S, Shin CH, Lee J, et al. Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome. Blood. 2021;138(21):2117-2128 →