Results 151 to 160 of about 1,172 (162)

EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type

Human Mutation, 2020
Jeanne Amiel, Véronique Pingault, Raymond O'Keefe   +2 more
exaly  

A novel de novo missense mutation in EFTUD2 identified by whole‐exome sequencing in mandibulofacial dysostosis with microcephaly

Journal of Clinical Laboratory Analysis, 2022
Huaqin Sun, Ting Hu, Mei Yang
exaly  

eP246: Novel EFTUD2 variant adds to understanding of phenotypic spectrum of mandibulofacial dysostosis with microcephaly

Genetics in Medicine, 2022
Kathleen Shields, Kate Mowrey, Paul Hillman   +2 more
openaire   +1 more source

Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea

Diagnostics, 2020
Byung Yoon Choi, Jinhee Han, Da-Hye Lee   +2 more
exaly  

EFTUD2 restricts hepatitis B virus infection by regulating RIG-I expression

Journal of Hepatology, 2018
C. Zhu, F. Xiao, Q. Wang, T. Zhu, L. Kong, J. Li   +5 more
openaire   +1 more source

“Mandibulofacial dysostosis with microcephaly” caused by EFTUD2 mutations: Expanding the phenotype

American Journal of Medical Genetics, Part A, 2013
Daniela Varela Luquetti
exaly  

Radioulnar Synostosis and Brain Abnormalities in a Patient with 17q21.31 Microdeletion Involving EFTUD2

Cleft Palate-Craniofacial Journal, 2015
Zarate Ya, G Bradley Schaefer
exaly  

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

Birth Defects Research Part A: Clinical and Molecular Teratology, 2015
Elena Semina
exaly  

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations

Journal of Applied Genetics, 2014
Dariusz Patkowski, Maria Sasiadek, Robert Smigiel   +2 more
exaly  

Delineation ofEFTUD2Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients

Human Mutation, 2014
Stanislas Lyonnet, Jeanne Amiel, Florence Petit   +2 more
exaly