Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings
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In this article, we report on a Brazilian female patient born to consanguineous parents and presenting with alobar holoprosencephaly, severe eye involvement, and unusual skin hyperpigmented lesions. She was found to have a mutation (c.2240T > C; p.Val751Gly) i... ...
