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A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy
We studied two monozygotic twins, born to first cousins, affected by a multisystem disease. At birth, they both presented with bilateral cryptorchidism and malformations. Since early adulthood, they developed a slowly progressive neurological syndrome, with cerebellar and pyramidal signs, cognitive...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Ltd
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520657/ https://www.ncbi.nlm.nih.gov/pubmed/25872942 http://dx.doi.org/10.15252/emmm.201404803 |