Fig. 3From: The most 5′ truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case reportMutation analysis. Sanger sequencing shows that the proband is homozygous while his mother is heterozygous for the WNT1 c.6delG, p.Leu3Serfs*36 mutationBack to article page