Dyskeratosis congenita
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]
Synonyms and keywords: Zinsser-Cole-Engman syndrome; X-linked dyskeratosis congenita; Cole-Rauschkolb-Toomey syndrome; DKCX
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Dyskeratosis Congenita from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies
Treatment
Medical Therapy | Surgery | Primary prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Invesetigational Therapies Medical Therapy Surgery Primary Prevention Secondary Prevention Cost-Effectiveness of Therapy Future or Investigational Therapies
References
External links
- GeneReviews/NCBI/NIH/UW entry on Dyskeratosis Congenita
- Dyskeratosis Congenita research study of Inherited Bone Marrow Failure Syndromes (IBMFS)
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