A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria

Polymicrogyria is a brain malformation characterized by excessive folding of the cortex. To date, numerous causes of polymicrogyria have been identified, including variants in the genes associated with tubulinopathies. Herein, we present a child with severe intellectual disability, refractory to tre...

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Detalles Bibliográficos
Autores principales: Thulasirajah, Salini, Wang, Xueqi, Sell, Erick, Dávila, Jorge, Dyment, David A., Kernohan, Kristin D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859306/
https://www.ncbi.nlm.nih.gov/pubmed/36672848
http://dx.doi.org/10.3390/genes14010108

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859306/
https://www.ncbi.nlm.nih.gov/pubmed/36672848
http://dx.doi.org/10.3390/genes14010108

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