Phenotypic variability in patients with unique double homozygous mutations causing variant ataxia telangiectasia

Keyphrases

• Phenotypic Variation 100%
• Homozygous mutation 100%
• Ataxia Telangiectasia 100%
• Ataxia Telangiectasia mutated 100%
• Fever 33%
• Post-translational 33%
• Neurodegenerative Diseases 33%
• Malignancy 33%
• Variable Phenotype 33%
• Biallelic mutations 33%
• Ataxia 33%
• Dystonia 33%
• Residual Activity 33%
• Global Developmental Delay 33%
• Mild Phenotype 33%
• First Symptom 33%
• Sparse Data 33%
• Ideomotor Apraxia 33%
• Environmental Epigenetics 33%
• Translational Factors 33%
• Truncal Ataxia 33%

Neuroscience

• Ataxia Telangiectasia 100%
• Ataxia Telangiectasia Mutated 100%
• Ataxia 66%
• Neurodegenerative Disorder 33%
• Dystonia 33%
• Apraxia 33%
• Mutated Genes 33%

Biochemistry, Genetics and Molecular Biology

• Ataxia Telangiectasia Mutated 100%
• Retrospective Study 33%
• Epigenetics 33%
• Mutated Genes 33%