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[HTML][HTML] Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria
J Chen, X Li, G Luo, X Yu, Q Liu, M Peng… - European Journal of …, 2025 - Elsevier
Lissencephaly (LIS) is a subtype of malformations of cortical development (MCD),
characterized by smooth brain surfaces and underdeveloped gyri and sulci. This study …
characterized by smooth brain surfaces and underdeveloped gyri and sulci. This study …