Subcortical Band Heterotopia
What's New
Last Posted: Dec 29, 2024
- Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria.
Jun Chen, et al. European journal of medical genetics 2024 0 104991 - Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders.
González-Morón Dolores, et al. PloS one 2017 0 (9) e0185103 - Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations.
Accogli Andrea, et al. Seizure 2020 0 145-152 - Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain.
Ye Zimeng, et al. Brain communications 2021 0 (1) fcaa235 - Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Di Donato Nataliya, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 4 - Subcortical band heterotopia
From NCATS Genetic and Rare Diseases Information Center - Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
Morris-Rosendahl D J, et al. Clinical genetics 2008 11 (5) 425-33 - The location of DCX mutations predicts malformation severity in X-linked lissencephaly.
Leger Pierre-Louis, et al. Neurogenetics 2008 10 (4) 277-85
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- Page last reviewed:Feb 1, 2024
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