The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification
Abstract Mutations in the cytoplasmic dynein 1 heavy chain gene ( DYNC1H1 ) have been identified in rare neuromuscular (NMD) and neurodevelopmental (NDD) disorders such as spinal muscular atrophy with lower extremity dominance (SMALED) and autosomal dominant mental retardation syndrome 13 (MRD13). P...
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| Main Authors: | , , , , , , , , , , , , , , , , , |
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| 格式: | Artigo |
| 语言: | 英语 |
| 出版: |
2020
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| 在线阅读: | https://doi.org/10.1038/s10038-020-0803-1 https://www.nature.com/articles/s10038-020-0803-1.pdf |
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