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An Amino Acid Deletion in SZT2 in a Family with Non-Syndromic Intellectual Disability
Autosomal recessive intellectual disability (ID) is characterized by extensive genetic heterogeneity. Recently, three mutations in SZT2 were reported in two unrelated children with unexplained infantile epileptic encephalopathy with severe ID. Here we report a European American family with three chi...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3855772/ https://www.ncbi.nlm.nih.gov/pubmed/24324832 http://dx.doi.org/10.1371/journal.pone.0082810 |