Nagai-Tanima et al., 2020 - Rare hypomorphic human variation in the heptahelical domain of SMO contributes to holoprosencephaly phenotypes. Human Mutation   41(12):2105-2118 Full text @ Hum. Mutat.
6 Genes / Markers
Marker Type Symbol Name
Gene neurod4 neuronal differentiation 4
Gene pax2a paired box 2a
Gene pax6a paired box 6a
Gene ptch1 patched 1
Gene ptch2 patched 2
Gene smo smoothened, frizzled class receptor
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