SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature
Abstract Compound heterozygous mutations in SHQ1 have been associated with a rare and severe neurological disorder characterized by global developmental delay (GDD), cerebellar degeneration coupled with seizures, and early-onset dystonia. Currently, only five affected individuals have been documente...
সংরক্ষণ করুন:
| প্রধান লেখক: | , , , , , , |
|---|---|
| বিন্যাস: | Artigo |
| ভাষা: | Inglês |
| প্রকাশিত: |
Nature Publishing Group
2023-02-01
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| মালা: | Human Genome Variation |
| অনলাইন ব্যবহার করুন: | https://doi.org/10.1038/s41439-023-00234-z |
| ট্যাগগুলো: |
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