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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Diagnostics (Basel)
मुख्य लेखकों: Szczałuba, Krzysztof, Rydzanicz, Małgorzata, Walczak, Anna, Kosińska, Joanna, Koppolu, Agnieszka, Biernacka, Anna, Iwanicka-Pronicka, Katarzyna, Grajkowska, Wiesława, Jurkiewicz, Elżbieta, Kowalczyk, Paweł, Płoski, Rafał
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: MDPI 2021
विषय:
ऑनलाइन पहुंच: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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