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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Eur J Hum Genet
Päätekijät: Rodan, Lance H, Cohen, Julie, Fatemi, Ali, Gillis, Tammy, Lucente, Diane, Gusella, James, Picker, Jonathan D
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2016
Aiheet:
Short Report
Linkit: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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