Reticular dysgenesis caused by an intronic pathogenic variant in AK2
Authors: Shoji Ichikawa; Susan Prockop; Charlotte Cunningham-Rundles; Travis Sifers; Blair Conner; Sitao Wu; Rachid Karam; Michael F Walsh; Elise Fiala
Collaborators: Icahn School of Medicine at Mount Sinai; Memorial Sloan Kettering Cancer Center
Journal: Cold Spring Harbor perspectives in medicine