Porphyria cutanea tarda: A novel mutation
A 5 year old child with waxing and waning vesicobullous lesions on exposed parts since two years. Blood porphyrin levels were increased and Woods lamp revealed erythrodontia. DNA analysis showed the child was homozygous and both parents were heterozygous for a novel pathogenic mutation V256M in urop...
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| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2016-05-01
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| coleção: | Pediatric Hematology Oncology Journal |
| Assuntos: | |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S2468124516300092 |
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