TY  - GEN
AU  - Punwani,Divya
AU  - Zhang,Yong
AU  - Yu,Jason
AU  - Cowan,Morton J
AU  - Rana,Sadhna
AU  - Kwan,Antonia
AU  - Adhikari,Aashish N
AU  - Lizama,Carlos O
AU  - Mendelsohn,Bryce A
AU  - Fahl,Shawn P
AU  - Chellappan,Ajithavalli
AU  - Srinivasan,Rajgopal
AU  - Brenner,Steven E
AU  - Wiest,David L
AU  - Puck,Jennifer M
TI  - Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B
SN  - 1533-4406
PY  - 2016///1229
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Animals
KW  - Brain
KW  - diagnostic imaging
KW  - Cell Movement
KW  - Disease Models, Animal
KW  - Gene Expression Regulation
KW  - Hematopoietic Stem Cell Transplantation
KW  - Hematopoietic Stem Cells
KW  - metabolism
KW  - Humans
KW  - In Vitro Techniques
KW  - Infant, Newborn
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mutation, Missense
KW  - Neonatal Screening
KW  - methods
KW  - Receptors, Antigen, T-Cell
KW  - Repressor Proteins
KW  - deficiency
KW  - Severe Combined Immunodeficiency
KW  - Tumor Suppressor Proteins
KW  - Zebrafish
KW  - growth & development
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1056/NEJMoa1509164
ER  -