PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay

Keyphrases

• Failure to Thrive 100%
• Developmental Delay 100%
• Hypotonia 100%
• Pax7 100%
• Regeneration 14%
• Transcription Factor 14%
• Microcephaly 14%
• Seizure 14%
• Myosin 14%
• Growth Hormone Deficiency 14%
• Brain MRI 14%
• Testicle 14%
• Whole Exome Sequencing 14%
• Autosomal Recessive 14%
• Single Disease 14%
• Splicing mutation 14%
• Disease-causing mutations 14%
• Neural Crest 14%
• Skeletal muscle 14%
• Pathological Findings 14%
• Muscle Biopsy 14%
• Muscle Weakness 14%
• Homozygosity Mapping 14%
• Kindred 14%
• Pituitary 14%
• Muscle Regeneration 14%
• Carnitine Level 14%
• Homozygosity 14%
• Global Developmental Delay 14%
• Electromyography 14%
• Muscle Fiber 14%
• Self-mutilation 14%
• Null Mice 14%
• Myogenesis 14%
• Metabolic Screen 14%
• Muscle Phenotype 14%
• Pyramidal Signs 14%
• Dystonic Posture 14%
• Nonsense-mediated mRNA Decay 14%
• Lineage Specification 14%
• Null mutant Mice 14%
• Biochemical Screen 14%
• Human muscle 14%

Biochemistry, Genetics and Molecular Biology

• PAX7 100%
• Isoform 50%
• Homozygosity 50%
• Mouse 25%
• Transfection 25%
• Transcription Factors 25%
• Knockout Mouse 25%
• Nonsense-Mediated Decay 25%
• Exome Sequencing 25%
• Autosomal Recessive Inheritance 25%
• Splice Site Mutation 25%
• Skeletal Muscle 25%
• Mouse Mutant 25%
• Myogenesis 25%
• Bovine Somatotropin 25%
• Growth Hormone 25%
• Irritability 25%
• Neural Crest 25%
• Muscle Regeneration 25%
• Body Position 25%
• Electromyography 25%