Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome

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Authors: Belén García-Bohórquez; Purificación Marín-Reina; Elena Aller; Pilar Barberán-Martínez; Miguel Armengot; Roberto Llorens-Salvador; Inmaculada Concepción Almor-Palacios; José M. Millán; Gema García-García

Journal title: Human Genomics

Published year: 2025

DOI identifier: 10.1186/S40246-025-00759-0