Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss

The American Journal of Human Genetics 2026 Open access

Read full text
Authors: Nicole Bertola, Éléonore Blondiaux, Madeleine Harion, Imen Dorboz, S. Passemard, Mercier Sandra, Solène Conrad, Benjamin Cogné, Julie L. Boyer, Sophie Uyttebroeck, Kristof Van Schil, Wim A. Wuyts
+9 more Nanna Dahl Rendtorff, Mette Lykke Norgaard Bertelsen, Kristianna Mey, Pierre Blanc, Jérôme Champ, Odile Boespflug‐Tanguy, Vincent Cantagrel, Lydie Bürglen, Marion Coolen
DOI: 10.1016/j.ajhg.2025.12.016
Cited by: 1
References: 76

Fields of Study & Subjects

Hearing Cochlea Tinnitus Genetics Fetal and Pediatric Neurological Disorders Genomics and Rare Diseases

Publication details

Journal / source
The American Journal of Human Genetics
Publisher
Elsevier BV
Volume
113
Issue
2
Pages
342–361
Publication date
26 January 2026
Language
EN