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Phenotype Analysis and Genetic Study of Chinese Patients With Treacher Collins Syndrome.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Aug 2022

Lu Meng, Yang Bin, Chen Zixiang, Jiang Haiyue, Pan Bo

Abstract excerpt

OBJECTIVE: The aim of this study was to confirm the pathogenic variants, explore the genotype-phenotype correlation and characteristics of Chinese patients with Treacher Collins syndrome (TCS). DESIGN: Clinical details of 3 TCS family cases and 2 sporadic cases were collected and analyzed. Whole-exome sequencing and Sanger sequencing were conducted to detect causative variants. SETTING: Tertiary clinical care....

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PMID: 34397304
DOI: 10.1177/10556656211037509

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