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Article

De novo TCOF1 mutation in Treacher Collins syndrome.

International journal of pediatric otorhinolaryngology - 1 Aug 2021

Liu Jinxiu, Dong Jing, Li Peimei, Duan Wenyuan

Abstract excerpt

OBJECTIVE: To analyze the genetic cause of a hearing loss child with the Treacher Collins syndrome (TCS) phenotypes of malar hypoplasia, micrognathia, antimongoloid slanting palpebral fissures and cup ears. METHODS: Clinical analysis, hearing tests, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) were performed on the family members. RESULTS: The 6 months old boy with a range of Treacher...

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Identifiers

PMID: 34058530
DOI: 10.1016/j.ijporl.2021.110765

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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.

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