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 ZO, Karaman B, Demirören T, DiTroia S, Heron D, Sabatier I, Rodan LH, Girisha KM, Radhakrishnan P, Saunders C, Sullivan B, Fleming E, Alvi JR, Sultan T, Houlden H, Efthymiou S, Sacoto MJG, Goodman M, Pierron L, De Sainte-Agathe JM, Durr A, Sherr EH.
Le C, et al. Among authors: sullivan b.
medRxiv [Preprint]. 2024 Dec 17:2024.10.11.24312856. doi: 10.1101/2024.10.11.24312856.
medRxiv. 2024.
PMID: 39502664
Free PMC article.
Preprint.