Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome

Keyphrases

• Proband 100%
• Clinical Manifestations 100%
• Novel Pathogenic Variant 100%
• SOX10 100%
• Waardenburg Syndrome 100%
• Allelic Variability 33%
• Pathogenic Variants 16%
• Developmental Delay 16%
• Clinical Features 16%
• Motor Skills 16%
• Transcription Factor 16%
• Iris 16%
• Hearing Impairment 16%
• Malformation 16%
• Embryonic Development 16%
• Cell Differentiation 16%
• Exon 3 16%
• HMG-box 16%
• Clinical Heterogeneity 16%
• Clinical Variability 16%
• Sensorineural Hearing Impairment 16%
• Causal Genes 16%
• Cell Fate 16%
• Hirschsprung Disease 16%
• Loss of pigmentation 16%
• Semicircular Canal 16%
• SOX Family 16%
• Pigmentary Defects 16%
• Pigmentary Disorders 16%

Biochemistry, Genetics and Molecular Biology

• Proband 100%
• SOX10 100%
• Exon 16%
• Transcription Factors 16%
• HMG-box 16%
• Embryogenesis 16%
• Cellular Differentiation 16%
• Pigmentation 16%
• Motor Performance 16%
• Cell Fate 16%