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Menkes disease diagnosed by a novel ATP7A frameshift mutation in a patient with infantile spasms—a case report
Menkes disease (MD) is a rare congenital copper deficiency disease caused by an adenosine triphosphatase copper transporting alpha (ATP7A) gene mutation. It is a progressive and systemic disease that primarily involves the central nervous system and connective tissues. The clinical manifestation of...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
AME Publishing Company
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8349949/ https://www.ncbi.nlm.nih.gov/pubmed/34430447 http://dx.doi.org/10.21037/tp-21-275 |