Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation. [electronic resource]
Producer: 20121022Description: e38220 p. digitalISSN:- 1932-6203
- Adolescent
- Antigens -- genetics
- Bone and Bones -- diagnostic imaging
- Child
- Child, Preschool
- Extracellular Signal-Regulated MAP Kinases -- metabolism
- Female
- Heterozygote
- Humans
- Infant
- Infant, Newborn
- Mitogen-Activated Protein Kinases -- metabolism
- Mutation
- Neuroimaging
- Phenotype
- Phosphorylation
- Proto-Oncogene Proteins c-akt -- metabolism
- Radiography
- Receptor, IGF Type 1 -- genetics
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Publication Type: Case Reports; Journal Article
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