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

Mutation in the ERCC2 gene identified in a Chinese trichothiodystrophy patient.

The Journal of dermatology - 1 May 2021

Tao Jing-Jing, Yang Chao, Li Jia-Feng, Pan Hui-Qing, Chen Wen-Jing, Yang Bin

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to China
Share to DNA Repair
Share to Mutation
Share to Xeroderma Pigmentosum Group D Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 33687104
DOI: 10.1111/1346-8138.15787

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

Mutation in the ERCC2 gene identified in a Chinese trichothiodystrophy patient.PMID 33687104Read ↗

ERCC2 mutations in two siblings with a severe trichothiodystrophy phenotype.Semantic proximity Read ↗

Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China.Semantic proximity Read ↗

The First Reported Case of Trichothiodystrophy in Hungary: A Young Male Patient with Mutations in the ERCC2 Gene.Semantic proximity Read ↗

A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship.Semantic proximity Read ↗

Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.Semantic proximity Read ↗

Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene.Semantic proximity Read ↗

Prenatal Diagnosis of Trichothiodystrophy Associated with a Novel ERCC2 Variant: Expanding the Genotype–Phenotype Spectrum— a case reportSemantic proximity Read ↗

Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.Semantic proximity Read ↗

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.Semantic proximity Read ↗

Identification of a new mutation in TRPS1 gene leading to tricho-rhino-phalangeal syndrome I in a Chinese patient.Semantic proximity Read ↗

Clinical, biochemical, and genetic analysis of two Korean patients with Trichorhinophalangeal syndrome type I and growth hormone deficiencySemantic proximity Read ↗

The genetic basis of xeroderma pigmentosum and trichothiodystrophy syndromes.Semantic proximity Read ↗

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