A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3

Keyphrases

• Amino Acid Substitution 100%
• Tubulin Isotypes 100%
• TUBB3 100%
• Novel Syndrome 100%
• Kallmann Syndrome 75%
• Congenital Fibrosis of the Extraocular muscles 75%
• TUBB3 E410K Syndrome 75%
• Syndromic 50%
• Cyclic Vomiting Syndrome 50%
• Neuroimaging 25%
• Clinical Features 25%
• Strabismus 25%
• Missense mutation 25%
• Axon Guidance 25%
• Intellectual Disability 25%
• Peripheral Neuropathy 25%
• Electrophysiology 25%
• New Genetics 25%
• Facial Nerve 25%
• Protein Binding Site 25%
• Feature Combination 25%
• Specificity Protein 1 25%
• Olfactory Bulb 25%
• Cranial Nerves 25%
• Genetic Etiology 25%
• Genotype-phenotype Correlation 25%
• Developmental Delay 25%
• Hypoplastic 25%
• Unrelated Individuals 25%
• Mutation-based 25%
• Anterior Commissure 25%
• Kinesin Motor Protein 25%
• Sensorimotor Polyneuropathy 25%
• Oculomotor Nerve 25%
• Anosmia 25%
• De-novo mutations 25%
• Midface Hypoplasia 25%
• Dysmotility 25%
• Tracheomalacia 25%
• Vocal Cord Paralysis 25%
• Hypogonadotropic Hypogonadism 25%
• Olfactory Sulcus 25%
• Facial Weakness 25%
• Thin Corpus Callosum 25%
• Axon Maintenance 25%
• Moebius Syndrome 25%

Medicine and Dentistry

• Extraocular Muscle 100%
• Fibrosis 100%
• Amino Acid Substitution 100%
• Kallmann Syndrome 100%
• Tubulin 100%
• Clinician 33%
• Clinical Feature 33%
• Disease 33%
• Polyneuropathy 33%
• Neuropathy 33%
• Missense Mutation 33%
• Corpus Callosum 33%
• Genotype Phenotype Correlation 33%
• Developmental Delay 33%
• Facial Nerve 33%
• Axon Guidance 33%
• Olfactory Bulb 33%
• Motor Protein 33%
• Anosmia 33%
• Oculomotor Nerve 33%
• Midface Hypoplasia 33%
• Vocal Cord Paresis 33%
• Anterior Commissure 33%
• Congenital Strabismus 33%
• Hypogonadotropic Hypogonadism 33%
• Möbius Syndrome 33%
• Facial Weakness 33%
• Tracheomalacia 33%
• Kinesin 33%
• Intellectual Disability 33%
• Binding Site 33%
• Electrophysiology 33%
• Cranial Nerve 33%

Biochemistry, Genetics and Molecular Biology

• Tubulin 100%
• TUBB3 100%
• Amino Acid Substitution 100%
• Genetics 14%
• Kinesin 14%
• Mental Retardation 14%
• Missense Mutation 14%
• Binding Site 14%
• Axon Guidance 14%
• Electrophysiology 14%
• Motor Protein 14%
• Molecular Motor 14%
• Genotype-Phenotype Correlation 14%