Autosomal recessive intellectual disability caused by compound heterozygous variants of the EEF1D gene in a Chinese family

ConclusionsOur study expands the variation spectrum and provides compelling evidence forEEF1D as a candidate gene for autosomal recessive intellectual disability. However, due to the deficient number of reported cases, researchers need to further studyEEF1D and supplement the clinical phenotypes and treatment measures.

Source: Molecular Genetics & Genomic Medicine - December 12, 2023 Category: Genetics & Stem Cells Authors: Jiamei Zhang, Hongxing Liu, Mingmei Wang, Yiran Xu, Dengna Zhu, Fan Yang Tags: CLINICAL REPORT Source Type: research