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autosomal recessive dyskeratosis congenita 4 (DKCB4) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive dyskeratosis congenita 4

MONDO:0027353

Also known as:DKCB4dyskeratosis congenita, autosomal recessive 4

Overview

A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33.

ResearchLimited published research (3 articles)

Diagnosis

Biomarker and diagnostic research for autosomal recessive dyskeratosis congenita 4 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal recessive dyskeratosis congenita 4.

3 publications have been identified in PubMed for autosomal recessive dyskeratosis congenita 4. Research spans Case Report / Case Series (67%) and Diagnostic / Biomarker (33%).

Recent Publications

Soni J (2026). [PMID: 41741124](https://pubmed.ncbi.nlm.nih.gov/41741124/). *BMJ case reports*. [Case Report / Case Series]
de Almeida Junior HL (2025). [PMID: 41192028](https://pubmed.ncbi.nlm.nih.gov/41192028/). *Anais brasileiros de dermatologia*. [Diagnostic / Biomarker]
Shah A (2025). [PMID: 39939801](https://pubmed.ncbi.nlm.nih.gov/39939801/). *Journal of human genetics*. [Case Report / Case Series]

Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 5:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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autosomal recessive dyskeratosis congenita 4

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team