Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene

Keyphrases

• Proband 100%
• Dyskeratosis Congenita 100%
• Complex Inheritance 100%
• Inheritance Pattern 100%
• Telomerase Reverse Transcriptase Gene 100%
• Disease Severity 50%
• Heterozygous mutation 50%
• Autosomal Dominant 50%
• Compound Heterozygous mutation 50%
• Clinical Phenotype 50%
• Telomerase 50%
• Novel mutation 50%
• Mutant Alleles 50%
• Telomere Shortening 50%
• Dominant Negative Effect 50%
• Reverse Transcriptase 50%
• Telomere Length 50%
• Codominant 50%
• Short Telomere 50%
• RNA Template 50%
• Succeeding 50%
• Dyskeratosis 50%
• Intragenic Complementation 50%

Biochemistry, Genetics and Molecular Biology

• Allele 100%
• Dyskeratosis Congenita 100%
• Telomerase Reverse Transcriptase 100%
• Proband 50%
• Transfection 25%
• Autosomal Dominant Inheritance 25%
• DNA Template 25%
• RNA 25%
• Anticipation 25%
• Reverse Transcriptase 25%
• Telomerase 25%
• Telomere Length 25%
• Codominance 25%
• Telomere Shortening 25%
• Telomere 25%