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The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2
We report the second known family affected by deafness‐dystonia syndrome associated with loss of function of FITM2. Our patient is compound heterozygous for pathogenic FITM2 variants, while affected siblings in the first report were homozygous. This case provides evidence that this novel genetic dis...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132111/ https://www.ncbi.nlm.nih.gov/pubmed/30214770 http://dx.doi.org/10.1002/ccr3.1719 |