TY  - GEN
AU  - Hanson,Dan
AU  - Murray,Philip G
AU  - O'Sullivan,James
AU  - Urquhart,Jill
AU  - Daly,Sarah
AU  - Bhaskar,Sanjeev S
AU  - Biesecker,Leslie G
AU  - Skae,Mars
AU  - Smith,Claire
AU  - Cole,Trevor
AU  - Kirk,Jeremy
AU  - Chandler,Kate
AU  - Kingston,Helen
AU  - Donnai,Dian
AU  - Clayton,Peter E
AU  - Black,Graeme C M
TI  - Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth
SN  - 1537-6605
PY  - 2011///0919
KW  - Cell Line
KW  - Child, Preschool
KW  - Cullin Proteins
KW  - genetics
KW  - Cytoskeletal Proteins
KW  - Dwarfism
KW  - Female
KW  - Gene Expression
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Intellectual Disability
KW  - Male
KW  - Muscle Hypotonia
KW  - Mutation
KW  - Reverse Transcriptase Polymerase Chain Reaction
KW  - Spine
KW  - abnormalities
KW  - Transcription Factors
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2011.05.028
ER  -