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

Juvenile Idiopathic Inflammatory Myopathy in a Patient With Dyskeratosis Congenita Due to C16orf57 Mutation.

Journal of pediatric hematology/oncology - 1 Mar 2016

Kilic Sara S, Cekic Sukru

Abstract excerpt

Dyskeratosis congenita (DC) is a rare inherited disorder characterized by reticular skin pigmentation, oral cavity leukoplakia, and nail dystrophy. A variety of noncutaneous (dental, pulmonary, gastrointestinal, neurological, genitourinary, ophthalmic, and skeletal) abnormalities also have been reported. An 8-year-old boy with DC developed juvenile idiopathic inflammatory myopathy. C16orf57 mutation was...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Dyskeratosis Congenita
Share to Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Myositis

Share to Phosphoric Diester Hydrolases

Source

Identifiers

PMID: 26535771
DOI: 10.1097/MPH.0000000000000455

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Juvenile Idiopathic Inflammatory Myopathy in a Patient With Dyskeratosis Congenita Due to C16orf57 Mutation.PMID 26535771Read ↗

Dyskeratosis congenita: a literature review.Semantic proximity Read ↗

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.Semantic proximity Read ↗

[Clinical features and genotype analysis in a case of dyskeratosis congenita].Semantic proximity Read ↗

A Novel Missense Mutation of DKC1 In Dyskeratosis Congenita With Pulmonary Fibrosis.Semantic proximity Read ↗

CD8+ T-cell senescence and skewed lymphocyte subsets in young Dyskeratosis Congenita patients with PARN and DKC1 mutations.Semantic proximity Read ↗

A Novel Variant and a Missense Variant Identified in the DKC1 Gene in Three Chinese Familieswith Dyskeratosis CongenitaSemantic proximity Read ↗

Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene.Semantic proximity Read ↗

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

A unique homozygous WRAP53 Arg298Trp mutation underlies dyskeratosis congenita in a Chinese Han family.Semantic proximity Read ↗

Immunopathogenesis of juvenile dermatomyositis.Semantic proximity Read ↗

Identification of a novel mutation in DKC1 in dyskeratosis congenita.Semantic proximity Read ↗

Dyskeratosis Congenita (DC) Registry: identification of new features of DC.Semantic proximity Read ↗

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