Fig. 1
From: Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects
Clinical findings in patient 1 and molecular genetic findings in the family of patient 1: A triangular face, broad forehead, protruding eyebrow arches, narrow chin, full cheeks and lips, large ears and plagiocephaly. B Chest with supernumerary nipple. C Dorsal skin without pigmental or structural anomalies. D Feet with partial syndactyly D II/III and brachydaktyly DIII. E Electropherogram of Sanger sequencing reveals for patient 1 point mutations at position c.847G > C (p.Asp283His) in exon 9 of the PORCN gene. The mother shows a wildtype and a mutant signal. The father indicates only a wildtype signal (indicated by the arrows)