Commentary on UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression

J Med Genet. 2025 Jul 10:jmg-2025-110686. doi: 10.1136/jmg-2025-110686. Online ahead of print.

Tony Yammine¹, Sandra Mercier^{2

3}, Céline Poirsier¹, Nathalie Bednarek^{4

5}, Christine Clavel^{1

6}, Benjamin Cogné^{2

3}, Jan M Friedman⁷, Sila Rogan⁸, Marlène Rio⁹, Laurence Lodé¹, Alban Ziegler^{10

11}

¹ Service de Génétique, CRMR AnDDI-Rares, CHU de Reims, Reims, France.
² Service de Génétique Médicale, CHU de Nantes, Nantes, France.
³ Institut du Thorax, Université de Nantes, Nantes, Pays de la Loire, France.
⁴ Pôle Femme Parents Enfants, CHU Reims, Reims, France, Reims, France.
⁵ CReSTIC/EA 3804, URCA, Reims, France, reims, France.
⁶ Inserm UMR-S 1250, Reims, Grand Est, France.
⁷ Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.
⁸ The University of British Columbia, Vancouver, British Columbia, Canada.
⁹ IHU Necker Enfants Malades - IMAGINE, Paris, France.
¹⁰ Service de Génétique, CRMR AnDDI-Rares, CHU de Reims, Reims, France ziegler.a@chu-toulouse.fr.
¹¹ Service de Génétique Médicale, CHU de Toulouse, Toulouse, France.

No abstract available

Keywords: Genetics.