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Environmental influences on familial discordance of phenotype in people with homocystinuria: a case report
INTRODUCTION: Non-heritable factors may have an influence on the clinical expression of monogenic inherited metabolic diseases. CASE PRESENTATION: This is a case report of a man whose mother had been diagnosed late in childhood with pyridoxine responsive homocystinuria with lens dislocation and neur...
| Autores principales: | , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2008
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2377250/ https://www.ncbi.nlm.nih.gov/pubmed/18423051 http://dx.doi.org/10.1186/1752-1947-2-113 |