GENETIC COUNSELING, vol.24, no.3, pp.253-258, 2013 (SCI-Expanded)
Severe congenital neutropenia in two siblings related to HAX1 mutation without neurodevelopmental disorders: Severe congenital neutropenia (SCN) is a lire primary myelopoiesis disorder, characterized by reduced absolute neutrophil counts from birth, increased susceptibility to recurrent and life-threatening infections, and a preleukemic predisposition.