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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Detalles Bibliográficos
Publicado en:Eur J Hum Genet
Main Authors: Rodan, Lance H, Cohen, Julie, Fatemi, Ali, Gillis, Tammy, Lucente, Diane, Gusella, James, Picker, Jonathan D
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2016
Assuntos:
Short Report
Acceso en liña: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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