TY  - GEN
AU  - Balasubramanian,Meena
AU  - Pollitt,Rebecca C
AU  - Chandler,Kate E
AU  - Mughal,M Z
AU  - Parker,Michael J
AU  - Dalton,Ann
AU  - Arundel,Paul
AU  - Offiah,Amaka C
AU  - Bishop,Nicholas J
TI  - CRTAP mutation in a patient with Cole-Carpenter syndrome
SN  - 1552-4833
PY  - 2016///0429
KW  - Bone and Bones
KW  - abnormalities
KW  - Child
KW  - Craniosynostoses
KW  - diagnosis
KW  - Extracellular Matrix Proteins
KW  - genetics
KW  - Eye Abnormalities
KW  - Facies
KW  - Female
KW  - Genetic Association Studies
KW  - Homozygote
KW  - Humans
KW  - Hydrocephalus
KW  - Molecular Chaperones
KW  - Mutation
KW  - Osteogenesis Imperfecta
KW  - Phenotype
KW  - Radiography
KW  - Sequence Analysis, DNA
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.36916
ER  -