Fig. 3From: A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndromeThe suspected pathogenic variant. Sanger sequencing of TCOF1 revealed a GTGA deletion in A the proband (IV-1) and B his mother (III-3), but not in C his father (III-2); and in D the cousin of the proband (IV-4) and E his mother (III-6), but not in F his father (III-7). G The location and pattern of the splice site variation in TCOF1Back to article page