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Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy
Intellectual disability is genetically heterogeneous, and it is likely that many of the responsible genes have not yet been identified. We describe three siblings with isolated, severe developmental encephalopathy. After extensive uninformative genetic and metabolic testing, whole exome sequencing i...
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| Publicado en: | J Inherit Metab Dis |
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| Autores principales: | , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2015
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4919120/ https://ncbi.nlm.nih.gov/pubmed/25758935 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-015-9824-x |
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