Ontology highlight
ABSTRACT:
SUBMITTER: Notarangelo LD
PROVIDER: S-EPMC4234865 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Notarangelo Lucia Dora LD Savoldi Gianfranco G Cavagnini Sara S Bennato Veronica V Vasile Sabrina S Pilotta Alba A Plebani Alessandro A Porta Fulvio F
Italian journal of pediatrics 20141114
Severe Congenital Neutropenia type 4 (SCN4, OMIM 612541) is a rare autosomal recessive disease due to mutations in the G6PC3 gene. The phenotype comprises neutropenia of variable severity and other anomalies including congenital heart defects, prominent superficial veins, uro-genital anomalies, facial dysmorphism, growth and developmental delay and intermittent thrombocytopenia. In some patients, SCN represents the only manifestation of the disease. Variable findings have been reported at bone m ...[more]