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Article

[TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Sept 2023

Li Yonghua, Chi Wenyue, Lin Ken, Zu Jinyan, Shao Hua, Mao Zhiyong, Chen Quandong, Ma Jing

Abstract excerpt

Objective:By analyzing the clinical phenotypic characteristics and gene sequences of two patients with Treacher Collins syndrome（TCS）, the biological causes of the disease were determined. Then discuss the therapeutic effect of hearing intervention after bone bridge implantation. Methods:All clinical data of the two family members were collected, and the patients signed the informed consent. The peripheral blood...

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Identifiers

PMID: 37640998
DOI: 10.13201/j.issn.2096-7993.2023.09.011
PMCID: PMC10722122

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