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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Bibliografiske detaljer
Udgivet i:Eur J Hum Genet
Main Authors: Rodan, Lance H, Cohen, Julie, Fatemi, Ali, Gillis, Tammy, Lucente, Diane, Gusella, James, Picker, Jonathan D
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2016
Fag:
Short Report
Online adgang: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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