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A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene
We report compound heterozygous variants in HTT, the gene encoding huntingtin, in association with an autosomal recessive neurodevelopmental disorder. Three siblings presented with severe global developmental delay since birth, central hypotonia progressing to spastic quadraparesis, feeding difficul...
Shranjeno v:
| izdano v: | Eur J Hum Genet |
|---|---|
| Main Authors: | , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group
2016
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5117927/ https://ncbi.nlm.nih.gov/pubmed/27329733 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.74 |
| Oznake: |
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