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Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX
Mutations in the Aristaless-related homeobox gene (ARX) lead to a range of X-linked intellectual disability phenotypes, with truncating variants generally resulting in severe X-linked lissencephaly with ambiguous genitalia (XLAG), and polyalanine expansions and missense variants resulting in infanti...
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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4930085/ https://ncbi.nlm.nih.gov/pubmed/26306640 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.176 |
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