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 screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations.

Molecular genetics and genomics : MGG - 1 Apr 2018

Chen Ying, Guo Luo, Li Chen-Long, Shan Jing, Xu Hai-Song, Li Jie-Ying, Sun Shan, Hao Shao-Juan, Jin Lei, Chai Gang, Zhang Tian-Yu

Abstract excerpt

Treacher Collins syndrome (TCS) (OMIM 154500) is a rare congenital craniofacial disorder with an autosomal dominant manner of inheritance in most cases. To date, three pathogenic genes (TCOF1, POLR1D and POLR1C) have been identified. In this study, we conducted mutational analysis on Chinese TCS patients to reveal a mutational spectrum of known causative genes and show phenotype-genotype data to provide more...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to China

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

Share to Cohort Studies

Share to DNA Copy Number Variations

Share to Genetic Association Studies

Share to Mandibulofacial Dysostosis

Share to Nuclear Proteins

Share to Phosphoproteins

Source

Identifiers

PMID: 29230583
DOI: 10.1007/s00438-017-1384-3

Genes

TCOF1

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

Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations.PMID 29230583Read ↗

Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.Semantic proximity Read ↗

Phenotype Analysis and Genetic Study of Chinese Patients With Treacher Collins Syndrome.Semantic proximity Read ↗

A De Novo Mutation Destroys the Central Repeated Domain of TCOF1 in a Chinese Family with Treacher Collins SyndromeSemantic proximity Read ↗

Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome.Semantic proximity Read ↗

A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome.Semantic proximity Read ↗

A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome.Semantic proximity Read ↗

A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity.Semantic proximity Read ↗

A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome.Semantic proximity Read ↗

Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients.Semantic proximity Read ↗

Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D.Semantic proximity Read ↗

A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome.Semantic proximity Read ↗

Molecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome-Identification of Two Novel Mutations by Next-Generation Sequencing.Semantic proximity Read ↗

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