Fig. 1
From: Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients
A Pedigree of the hypospadias patients. * indicates members who were exome-sequenced. M: the mutated allele BRAF c. 362C > A; WT: wildtype BRAF allele; B Clinical evaluation of the patients. Up: the proband has penoscrotal hypospadias. Down: III-2 has mild constricted ear (notice the folded helical rim); C Conservation of the variant loci; D Sanger sequencing confirmed the variant. Left: heterozygous mutated allele; Right: wildtype allele