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[Clinical and genetic analysis of a patient with Treacher Collins syndrome in TCOF1 gene].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 May 2012

Li Hongbo, Zhang Xu, Li Zhenyue, Chen Jing, Lu Yu, Jia Jingjie, Yuan Huijun, Han Dongyi

Abstract excerpt

OBJECTIVE: To analyze the clinical and genetic features of a patient with Treacher Collins syndrome (TCS), and identify the mutation in TCOF1 gene. METHOD: The medical history was taken, and general physical examinations and otological examinations were conducted in this patient. Genomic DNA was extracted from this patient and his parents and complete TCOF1 gene coding exons were amplified by specific PCR...

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Identifiers

PMID: 22870720

Genes

TCOF1

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