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...

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Detalles Bibliográficos
Autores principales: Maillot, Francois, Kraus, Jan P, Lee, Philip J
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Case Report
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

Internet

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

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