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...
שמור ב:
| Main Authors: | , , , , , , , , , , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | אנגלית |
| יצא לאור: |
2020
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| גישה מקוונת: | https://doi.org/10.1038/s10038-020-0803-1 https://www.nature.com/articles/s10038-020-0803-1.pdf |
| תגים: |
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