EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model

ConclusionThis study reports a novel mutation in EFTUD2 in a Mandibulofacial Dysostosis, Guion‐Almeida type patient with unusual ocular features and the generation of a first animal model of eftud2 deficiency. The severe embryonic phenotype observed in eftud2 mutants indicates an important conserved role during development of diverse tissues in vertebrates. Birth Defects Research (Part A), 2015. © 2015 Wiley Periodicals, Inc.

Source: Birth Defects Research Part A: Clinical and Molecular Teratology - June 1, 2015 Category: Perinatology & Neonatology Authors: Brett Deml, Linda M. Reis, Sanaa Muheisen, David Bick, Elena V. Semina Tags: Original Research Article Source Type: research