Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A rare case of dyskeratosis congenita with DKC1 mutation presenting initially as thrombocytopenia: Case report.

Medicine - 2 Jan 2026

Wen Ruifan, Tian Jidong

Abstract excerpt

RATIONALE: Dyskeratosis congenita is a rare genetic disorder classically characterized by the mucocutaneous triad and bone marrow failure. Diagnosis is challenging when hematologic manifestations precede classic features. PATIENT CONCERNS: A 10-year-old male initially presented with isolated thrombocytopenia, which was misdiagnosed as aplastic anemia. DIAGNOSES: Retrospective examination revealed the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Androgens
Share to Cell Cycle Proteins
Share to Diagnosis, Differential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dyskeratosis Congenita

Share to Nuclear Proteins

Share to Pregnancy

Share to Prenatal Diagnosis

Share to Thrombocytopenia

Source

Open in PubMed Open full text

Identifiers

PMID: 41496029
DOI: 10.1097/MD.0000000000046956
PMCID: PMC12778165

Genes

DKC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A rare case of dyskeratosis congenita with DKC1 mutation presenting initially as thrombocytopenia: Case report.PMID 41496029Read ↗

Dyskeratosis congenita: a literature review.Semantic proximity Read ↗

Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis CongenitaSemantic proximity Read ↗

Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case reportSemantic proximity Read ↗

Late-onset dyskeratosis congenita due to a TERC (n.269G > C) variant-first reported case from Indonesia: a case report.Semantic proximity Read ↗

Updates on the biology and management of dyskeratosis congenita and related telomere biology disordersSemantic proximity Read ↗

[Clinical and genetic characteristics of a patient with dyskeratosis congenita].Semantic proximity Read ↗

An update on the biology and management of dyskeratosis congenita and related telomere biology disordersSemantic proximity Read ↗

The diagnosis and treatment of dyskeratosis congenita: a reviewSemantic proximity Read ↗

Dyskeratosis congenita.Semantic proximity Read ↗

The biology and management of dyskeratosis congenita and related disorders of telomeres.Semantic proximity Read ↗

Evaluation and Management of Hematopoietic Failure in Dyskeratosis Congenita.Semantic proximity Read ↗

Dyskeratosis CongenitaSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.