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Article

Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes.

Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery - 1 Sept 2020

Kantaputra Piranit Nik, Tripuwabhrut Kanich, Intachai Worrachet, Carlson Bruce M, Quarto Natalina, Ngamphiw Chumpol, Tongsima Sissades, Sonsuwan Nuntigar

Abstract excerpt

Treacher Collins syndrome (TCS: OMIM 154500) is an autosomal dominant craniofacial disorder belonging to the heterogeneous group of mandibulofacial dysostoses. OBJECTIVE: To investigate four Treacher Collins syndrome patients of the Sgaw Karen family living in Thailand. METHOD: Clinical examination, hearing tests, lateral cephalometric analyses, Computed tomography, whole exome sequencing and Sanger direct...

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Identifiers

PMID: 32351010
DOI: 10.1111/coa.13560

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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