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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

Carolyn Le,Emanuela Argilli, Elizabeth George,Tuğba Kalaycı,Zehra Oya Uyguner,Birsen Karaman, Tanju Demirören,Stephanie DiTroia,Delphine Heron,Isabelle Sabatier,Lance H Rodan,Katta Mohan Girisha,Periyasamy Radhakrishnan,Carol Saunders,Bonnie Sullivan,Emily Fleming,Javeria Raza Alvi,Tipu Sultan,Henry Houlden,Stephanie Efthymiou,Maria J Guillen Sacoto, Melanie Goodman,Lucie Pierron,Jean-Madeleine De Sainte-Agathe,Alexandra Durr,Elliott H Sherr

medRxiv the preprint server for health sciences（2024）

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