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Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings
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) in exon 15 of the PTCH1 gene. Mutation...
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| Publicado en: | J Pediatr Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Georg Thieme Verlag KG
2016
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| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5423795/ https://ncbi.nlm.nih.gov/pubmed/28496998 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0036-1588028 |
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