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 systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity.

Clinical genetics - 1 Feb 2023

Ulhaq Zulvikar Syambani, Nurputra Dian Kesumapramudya, Soraya Gita Vita, Kurniawati Siti, Istifiani Lola Ayu, Pamungkas Syafrizal Aji, Tse William Ka Fai

Abstract excerpt

Treacher Collins syndrome (TCS, OMIM: 154500) is a rare congenital craniofacial disorder that is caused by variants in the genes TCOF1, POLR1D, POLR1C, and POLR1B. Studies on the association between phenotypic variability and their relative variants are very limited. This systematic review summarized the 53 literatures from PubMed and Scopus to explore the potential TCS genotype-phenotype correlations with...

Read the complete abstract on PubMed

Topics

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

Share to DNA-Directed RNA Polymerases
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mandibulofacial Dysostosis

Share to Mutation

Source

Identifiers

PMID: 36203321
DOI: 10.1111/cge.14243

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity.PMID 36203321Read ↗

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

Phenotype Analysis and Genetic Study of Chinese Patients 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 ↗

Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families.Semantic proximity Read ↗

Treacher Collins Syndrome: the genetics of a craniofacial disease.Semantic proximity Read ↗

Treacher Collins Syndrome: Genetics, Clinical Features and ManagementSemantic proximity Read ↗

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

A novel mutation in the TCOF1 gene found in two Chinese cases of 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 ↗

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

A Novel Pathogenic Variant in POLR1D (c.220dup, p.His74ProfsTer8) Causes Treacher Collins Syndrome Type 2 in a Chinese Patient：A Case ReportSemantic proximity Read ↗

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