Possibility of somatic mosaicism of ELA2 mutation overlooked in an asymptomatic father transmitting severe congenital neutropenia to two offspring.
Benson
Kathleen F
KF
Horwitz
Marshall
M
D005260:Female; D006801:Humans; D019272:Leukocyte Elastase / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D020125:Mutation, Missense; D009503:Neutropenia / Q000235:genetics*; D010375:Pedigree
D019272:Leukocyte Elastase