<p>Filled symbols represent NSDTRs with the CP1 phenotype. Diagonal lines indicate that the NSDTR is deceased. “+” represents wildtype allele. “m” represents the mutant allele. [ ] genotypes were inferred if DNA was not available.</p
(Upper panel) Sequencing chromatograms from the affected individual V-1 and parent IV-1 from family-...
<p>The symbol sizes are proportional to the haplotype frequencies, the lines represent mutational st...
<p>Blackened symbols represent cancer-affected relatives. An arrow indicates the proband. Dx: age at...
<p>Filled symbols represent NSDTR cases. Bold symbols represent NSDTRs that were included in the GWA...
<p>Below the individuals, genotypes are presented for either p.S1653KfsX2 (M1), p.L2784R (M2), p.Y29...
<p>Genotype is provided for tested members as m/n for heterozygous carriers and n/n for homozygous w...
<p>Genetic analyses were performed on all individuals indicated by filled, divided and open symbols....
<p>Filled symbols represent affected, unfilled unaffected. Question marks indicate that it is not cl...
(Upper panel) Sequencing chromatogram of the affected individual IV-5 from family-128. Arrow marks t...
<p>A. Pedigrees of the two families with the p.A119S NKX2-5 mutation. Individuals with congenital he...
Sequencing chromatograms from the affected individual IV-1 and parent II-1. Arrows mark two differen...
(Upper panel) Sequencing chromatogram from the affected individual II-2 from family-123. Arrow marks...
(Upper panel) Sequencing chromatograms from the affected individual II-2 and parent I-1 from family-...
<p>The arrow indicates the proband; “+” indicates the presence of the mutation; na = DNA not availab...
(Upper panel) Sequencing chromatograms from the affected individual II-2 and the parent I-1 from fam...
(Upper panel) Sequencing chromatograms from the affected individual V-1 and parent IV-1 from family-...
<p>The symbol sizes are proportional to the haplotype frequencies, the lines represent mutational st...
<p>Blackened symbols represent cancer-affected relatives. An arrow indicates the proband. Dx: age at...
<p>Filled symbols represent NSDTR cases. Bold symbols represent NSDTRs that were included in the GWA...
<p>Below the individuals, genotypes are presented for either p.S1653KfsX2 (M1), p.L2784R (M2), p.Y29...
<p>Genotype is provided for tested members as m/n for heterozygous carriers and n/n for homozygous w...
<p>Genetic analyses were performed on all individuals indicated by filled, divided and open symbols....
<p>Filled symbols represent affected, unfilled unaffected. Question marks indicate that it is not cl...
(Upper panel) Sequencing chromatogram of the affected individual IV-5 from family-128. Arrow marks t...
<p>A. Pedigrees of the two families with the p.A119S NKX2-5 mutation. Individuals with congenital he...
Sequencing chromatograms from the affected individual IV-1 and parent II-1. Arrows mark two differen...
(Upper panel) Sequencing chromatogram from the affected individual II-2 from family-123. Arrow marks...
(Upper panel) Sequencing chromatograms from the affected individual II-2 and parent I-1 from family-...
<p>The arrow indicates the proband; “+” indicates the presence of the mutation; na = DNA not availab...
(Upper panel) Sequencing chromatograms from the affected individual II-2 and the parent I-1 from fam...
(Upper panel) Sequencing chromatograms from the affected individual V-1 and parent IV-1 from family-...
<p>The symbol sizes are proportional to the haplotype frequencies, the lines represent mutational st...
<p>Blackened symbols represent cancer-affected relatives. An arrow indicates the proband. Dx: age at...