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Menkes Disease with Discordant Phenotype in Female Monozygotic Twins
Menkes disease (MD) is a rare X-linked recessive disorder caused by mutations in the ATP7A gene. This neurodegenerative disorder typically affects males and is characterized by impaired copper distribution and the malfunction of several copper-dependent enzymes. We report clinically discordant femal...
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| Publicado en: | Am J Med Genet A |
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| Autores principales: | , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2015
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6475897/ https://ncbi.nlm.nih.gov/pubmed/26239182 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37276 |
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