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Article

A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome.

BMC medical genomics - 18 Mar 2024

Sun Haojie, Xu Xinda, Chen Binjun, Wang Yanmei, Lyu Jihan, Guo Luo, Yuan Yasheng, Ren Dongdong

Abstract excerpt

BACKGROUND: Treacher Collins syndrome (TCS; OMIM 154500) is a craniofacial developmental disorder. METHODS: To investigate the genetic features of a four-generation Chinese family with TCS, clinical examinations, hearing tests, computed tomography, whole-exome sequencing (WES), Sanger sequencing, reverse transcription (RT)-PCR, and the Minigene assay were performed. RESULTS: The probands, an 11-year-old male and...

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Identifiers

PMID: 38500116
DOI: 10.1186/s12920-024-01828-4
PMCID: PMC10946134

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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.

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