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

Dyskeratosis congenita and telomere biology disorders

9 Dec 2022

Abstract excerpt

Numerous genetic discoveries and the advent of clinical telomere length testing have led to the recognition of a spectrum of telomere biology disorders (TBDs) beyond the classic dyskeratosis congenita (DC) triad of nail dysplasia, abnormal skin pigmentation, and oral leukoplakia occurring with pediatric bone marrow failure. Patients with DC/TBDs have very short telomeres for their age and are at high risk of bone...

Read the complete abstract on PubMed

Topics

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

Share to Genetics, Aging, and Longevity in Model Organisms
Share to Telomeres, Telomerase, and Senescence

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 36485133
DOI: 10.1182/hematology.2022000394

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dyskeratosis congenita and telomere biology disordersPMID 36485133Read ↗

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

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

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

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

Telomere biology disorders: from dyskeratosis congenita and beyondSemantic proximity Read ↗

Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disordersSemantic proximity Read ↗

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

Dyskeratosis CongenitaSemantic proximity Read ↗

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

Dyskeratosis congenita.Semantic proximity Read ↗

The genetics and clinical manifestations of telomere biology disorders.Semantic proximity Read ↗

Dyskeratosis congenita as a disorder of telomere maintenance.Semantic proximity Read ↗

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