Fig. 1From: Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis a: Locations of the mutations in the BMPER protein, previously reported (1–7) and identified in this study (8–11). Truncating mutations in black; missense in blue. b: Evolutionary comparison of the amino acids affected by novel missense mutations in this study. Blue and red colours indicate weakly and strongly conserved amino acids respectivelyBack to article page