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. Author manuscript; available in PMC: 2014 Mar 1.
Published in final edited form as: Hum Genet. 2012 Nov 9;132(3):285–292. doi: 10.1007/s00439-012-1249-0

Fig. 1.

Fig. 1

a Pedigree of the proband (arrow) with CDH. Squares indicate male subjects, and circles female subjects; slashes indicate deceased subjects; filled indicate affected subjects with CDH, filled with light gray indicate anatomical Bochdalek hernias who were clinically asymptomatic, unfilled clinically asymptomatic subjects. Genotypes of GATA4 c.C754T for all the available individuals are indicated. b Sequence chromatograms of GATA4 in proband, sibling, father and mother indicate the paternally inherited c. C754T (red arrow) in exon 3 resulting in an Arginine to Tryptophan amino acid substitution at amino acid 252. The sequence is the complementary strand.