Associated Papers
Autosomal recessive intellectual disability caused by compound heterozygous variants of the EEF1D gene in a Chinese family.
Zhang J et al.
Molecular Genetics & Genomic Medicine, 2024
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.
Averdunk L et al.
Clinical Genetics, 2023
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability.
Ugur Iseri SA et al.
Journal of Human Genetics, 2019
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