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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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Dettagli Bibliografici
Pubblicato in:Diagnostics (Basel)
Autori principali: Szczałuba, Krzysztof, Rydzanicz, Małgorzata, Walczak, Anna, Kosińska, Joanna, Koppolu, Agnieszka, Biernacka, Anna, Iwanicka-Pronicka, Katarzyna, Grajkowska, Wiesława, Jurkiewicz, Elżbieta, Kowalczyk, Paweł, Płoski, Rafał
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2021
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Accesso online: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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