Open access
Aug 2026
Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry
Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment.
Jane Koo, Melissa Gerstle, Leah Cheng et al.
· Pediatric Blood & Cancer · 0 citations