Hh signalling

Although all of these developmental malformations impact the Hh signaling pathway in some way, they give rise to different phenotypes. These differences are visual indicators of different ways the Hh pathway can be disrupted. By discerning the gene that causes each syndrome and the molecule(s) that are disrupted as a result, you can figure out the role that the disrupted molecule normally plays in the pathway. For instance, based on the syndromes described above, you can infer that the Hh signaling pathway is responsible for eye and brain development. Knowledge of related abnormalities caused by disrupting a single pathway can elucidate the function of multiple components in the pathway and how those components interact with one another.