Fig. 3
From: A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome
Sanger sequencing analysis of SALL1 gene in genomic DNA from the family. The arrow indicates the mutation site (chr16:51175376: c.757 C > T p.Gln253* exon2, NM_002968). The proband (III4), her sisters (III2, III3), her father (II1) and her grandmother (I2) carried the mutation. Other family members did not have the mutation