Associated Papers
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.
Singh AK et al.
Brain : a Journal of Neurology, 2024
First reports of fetal SMARCC1 related hydrocephalus.
Rive Le Gouard N et al.
European Journal of Medical Genetics, 2023
A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin.
Al Mutairi F et al.
Annals of Neurology, 2018
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