Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder

Keyphrases

• Bone Marrow Failure 50%
• Causes of Mortality 50%
• Clinical Complications 50%
• DNA Damage Response 50%
• Dyskeratosis Congenita 50%
• Early childhood 50%
• Etiology 50%
• Genetic Defects 50%
• Genetic Disease 50%
• Germline mutation 50%
• Hoyeraal-Hreidarsson Syndrome 100%
• Mechanistic Explanation 50%
• Molecular Defects 50%
• Multisystem 50%
• Non-telomeric Function 50%
• Ribosome Assembly 50%
• Short Telomere 50%
• Spliceosome Assembly 50%
• Telomere Biology 100%
• Telomere Dysfunction 100%
• Telomere Protection 50%
• Telomere Replication 50%
• Telomere-binding Proteins 50%

Biochemistry, Genetics and Molecular Biology

• Bone Marrow Failure 14%
• DNA Damage Response 14%
• Dyskeratosis Congenita 14%
• Genetic Disorder 14%
• Genetics 14%
• Germline Mutation 14%
• Spliceosome 14%
• Telomere 100%