Clinical and molecular findings of genetic variants in the human SMO gene.
A summary of the relevant findings for each of the six HPE probands listed by their unique identifiers. Potential co-morbid driver mutations are listed where relevant (Richards et al., 2015). Similarly, co-variants are described in detail for each SMO variant positive proband in Suppl.TableS8-13 using the annotation scheme published in (Roessler et al., 2018a).