Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B. [electronic resource]
- The New England journal of medicine 12 2016
- 2165-2176 p. digital
Publication Type: Case Reports; Journal Article
1533-4406
10.1056/NEJMoa1509164 doi
Abnormalities, Multiple--genetics Animals Brain--diagnostic imaging Cell Movement Disease Models, Animal Gene Expression Regulation Hematopoietic Stem Cell Transplantation Hematopoietic Stem Cells--metabolism Humans In Vitro Techniques Infant, Newborn Magnetic Resonance Imaging Male Mutation, Missense Neonatal Screening--methods Receptors, Antigen, T-Cell Repressor Proteins--deficiency Severe Combined Immunodeficiency--genetics Tumor Suppressor Proteins--deficiency Zebrafish--growth & development