Publications by authors named "Debapratim Sil"
Objective: To analyze the lymphocyte subsets in individuals with Kabuki syndrome for better characterizing the immunological phenotype of this rare congenital disorder.
Methods: We characterized the immunological profile including B-, T- and natural killer-cell subsets in a series (N = 18) of individuals with Kabuki syndrome.
Results: All 18 individuals underwent genetic analysis: 15 had a variant in KMT2D and 3 a variant in KDM6A.