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DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants |
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| Authors: | Sonia Amabile Lauren Jeffries James M. McGrath Weizhen Ji Michele Spencer‐Manzon Hui Zhang Saquib A. Lakhani |
| Affiliation: | 1. Department of Pediatrics, Pediatric Genomics Discovery Program, Yale University School of Medicine, New Haven, Connecticut, USA;2. Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA;3. https://orcid.org/0000-0003-3235-3460;4. Saquib A. Lakhani, Department of Pediatrics, Pediatric Genomics Discovery Program, Yale University, 333 Cedar Street, PO Box 208064, New Haven, CT 06520‐8064. |
| Abstract: | |
| Keywords: | DYNC1H1 intellectual disability malformations in cortical development neuromuscular overlap spinal muscular atrophy |