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A De Novo Mutation Destroys the Central Repeated Domain of TCOF1 in a Chinese Family with Treacher Collins Syndrome

2022-12-02

Abstract excerpt

Treacher Collins syndrome (TCS, MIM #154500) is a severe congenital disorder implicated in particular dysplasia of the craniofacial bones, accompanied by downslanting palpebral fissures, lower eyelid colobomas, microtia, or other craniofacial malformations. However, the underlying pathogenic mutations in TCS are still unknown, and elucidating these is of primary importance for TCS researchers. We collected samples...

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Literature Corpus work: 117e9b5c-f79a-585d-908b-5169980f726b
DOI: 10.21203/rs.3.rs-2309764/v1

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