Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome? [electronic resource]
Producer: 20150129Description: 427-30 p. digitalISSN:- 1873-5150
- Bone and Bones -- abnormalities
- Brain -- pathology
- Dwarfism -- genetics
- Electroencephalography
- Epilepsies, Partial -- genetics
- Female
- Humans
- Infant
- Limb Deformities, Congenital -- genetics
- Lordosis -- genetics
- Magnetic Resonance Imaging
- Mutation
- Receptor, Fibroblast Growth Factor, Type 3 -- genetics
- Syndrome
- Temporal Lobe -- abnormalities
- Video Recording
No physical items for this record
Publication Type: Case Reports; Journal Article
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