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...

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Foilsithe in:Eur J Hum Genet
Main Authors: Rodan, Lance H, Cohen, Julie, Fatemi, Ali, Gillis, Tammy, Lucente, Diane, Gusella, James, Picker, Jonathan D
Formáid: Artigo
Teanga:Inglês
Foilsithe: Nature Publishing Group 2016
Ábhair:
Short Report
Rochtain Ar Líne: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
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