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. Author manuscript; available in PMC: 2018 Oct 1.
Published in final edited form as: J Hepatol. 2017 Jun 21;67(4):809–817. doi: 10.1016/j.jhep.2017.06.008

Figure 1.

Figure 1

Example of families segregating mutations that perturb SHH signaling. Families 1 and 4 correspond to kindreds segregating heterozygous SHH mutations. The majority of affected individuals in these two families have microform HPE (mutation positive individuals with subtle midline facial differences), though both families have deceased individuals who succumbed to severe HPE. The child with HPE and the mutation-positive mother in family 1 had fatty liver at the time of examination. The grandmother in family 4 also carried the mutation and had a history of fatty liver, but was not available for examination. In family 2, both the proband and her mother carry a SIX3 nonsense mutation; the proband has frank HPE, while the mother (as well as other family members who are not shown), demonstrate microform features only.