CRTAP mutation in a patient with Cole-Carpenter syndrome. [electronic resource]
Producer: 20160429Description: 587-91 p. digitalISSN:- 1552-4833
- Bone and Bones -- abnormalities
- Child
- Craniosynostoses -- diagnosis
- Extracellular Matrix Proteins -- genetics
- Eye Abnormalities -- diagnosis
- Facies
- Female
- Genetic Association Studies
- Homozygote
- Humans
- Hydrocephalus -- diagnosis
- Molecular Chaperones
- Mutation
- Osteogenesis Imperfecta -- diagnosis
- Phenotype
- Radiography
- Sequence Analysis, DNA
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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