A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) - Wiseman, Daniel H.; May, Alison; Jolles, Stephen; Connor, Philip; Powell, Colin; Heeney, Matthew M.; Giardina, Patricia J.; Klaassen, Robert J.; Chakraborty, Pranesh; Geraghty, Michael T.; Major-Cook, Nathalie; Kannengiesser, Caroline; et al. (Blood, 2013)
Keywords: Anemia, Sideroblastic - blood; Anemia, Sideroblastic - diagnosis; Anemia, Sideroblastic - genetics; B-Lymphocytes - immunology; Developmental Disabilities - blood; Developmental Disabilities - diagnosis; Developmental Disabilities - genetics; Familial Mediterranean Fever - blood; Familial Mediterranean Fever - diagnosis; Familial Mediterranean Fever - genetics; Female; Hearing Loss, Sensorineural - blood; Hearing Loss, Sensorineural - diagnosis; Hearing Loss, Sensorineural - genetics; Humans; Immunologic Deficiency Syndromes - blood; Immunologic Deficiency Syndromes - diagnosis; Immunologic Deficiency Syndromes - genetics; Infant; Infant, Newborn; Male; Nervous System Diseases - blood; Nervous System Diseases - diagnosis; Nervous System Diseases - genetics; Pedigree; Phenotype; Red Cells, Iron, and Erythropoiesis; Syndrome