TY  - GEN
AU  - Gennery,A R
AU  - Slatter,M A
AU  - Rice,J
AU  - Hoefsloot,L H
AU  - Barge,D
AU  - McLean-Tooke,A
AU  - Montgomery,T
AU  - Goodship,J A
AU  - Burt,A D
AU  - Flood,T J
AU  - Abinun,M
AU  - Cant,A J
AU  - Johnson,D
TI  - Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome
SN  - 1365-2249
PY  - 2008///0725
KW  - B-Lymphocytes
KW  - immunology
KW  - DNA Helicases
KW  - genetics
KW  - DNA-Binding Proteins
KW  - Disease Progression
KW  - Female
KW  - Genotype
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Killer Cells, Natural
KW  - Male
KW  - Mutation
KW  - Severe Combined Immunodeficiency
KW  - Syndrome
KW  - T-Lymphocytes
KW  - Thymus Gland
KW  - abnormalities
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1111/j.1365-2249.2008.03681.x
ER  -