A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome.

Abstract excerpt

OBJECTIVE: The purpose of this study is that analyze the clinical characters of Treacher Collins syndrome (TCS) with the de nove TCOF1 mutation and emphasize the genetic research result. METHODS: Genomic DNA from the proband and his parents were extracted from 200 to 400 μl of peripheral blood samples. A 4000 pathgenic genes diagnostic screening panel developed by our laboratory group was used for gene mutation...

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