Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements. [electronic resource]
Producer: 20050426Description: 373-89 p. digitalISSN:- 0065-9533
- Adenine
- Adolescent
- Adult
- Amino Acid Substitution
- Arginine
- Child
- Child, Preschool
- Chromosome Mapping
- Chromosomes, Human, Pair 11
- Cranial Nerves -- abnormalities
- Female
- Fibrosis
- Genes, Recessive
- Genetic Variation
- Glutamine
- Guanine
- Humans
- Kinesins -- genetics
- Male
- Mobius Syndrome -- complications
- Mutation
- Nerve Tissue Proteins -- genetics
- Oculomotor Muscles -- pathology
- Ophthalmoplegia -- complications
- Pedigree
- Phenotype
- Scoliosis -- complications
- Syndrome
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Publication Type: Case Reports; Journal Article
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