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Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affected Tissue
De novo somatic variants in genes encoding components of the PI3K–AKT3–mTOR pathway, including MTOR, have been linked to hemimegalencephaly or focal cortical dysplasia. Similarly to other malformations of cortical development, this condition presents with developmental delay and intractable epilepsy...
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| Publicado no: | Diagnostics (Basel) |
|---|---|
| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8303645/ https://ncbi.nlm.nih.gov/pubmed/34359351 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/diagnostics11071269 |
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