A De Novo Missense Variant in <i>TUBG2</i> 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...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2022-12-01
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Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/14/1/108 |