Novel Sonic Hedgehog Mutation in a Couple with Variable Expression of Holoprosencephaly
Figure 2
Nonsense heterozygous mutation at codon 127 of the SHH gene (W127X). This mutation causes a G for A transition at cDNA nucleotide 384 causing a substitution of tryptophan (TGG) for a stop codon (TGA) in exon 2 (c.384G→A).
