Homozygous N540K hypochondroplasia--first report: radiological and clinical features. [electronic resource]
Producer: 20150818Description: 1784-8 p. digitalISSN:- 1552-4833
- Bone and Bones -- abnormalities
- Brain -- pathology
- Dwarfism -- diagnosis
- Facies
- Genetic Association Studies
- Heterozygote
- Homozygote
- Humans
- Infant
- Limb Deformities, Congenital -- diagnosis
- Lordosis -- diagnosis
- Magnetic Resonance Imaging
- Male
- Mutation
- Phenotype
- Radiography
- Receptor, Fibroblast Growth Factor, Type 3 -- genetics
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Publication Type: Case Reports; Journal Article
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