Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

Le C., Argilli E., George E., Kalaycı T., Uyguner Z. O., Karaman B., ...Daha Fazla

medRxiv : the preprint server for health sciences, 2024 (Hakemli Dergi)