Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants
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DOI: 10.1002/humu.24215
Abstract: Mental deficiency, epilepsy, hypogonadism, microcephaly, and obesity syndrome is a severe X‐linked syndrome caused by pathogenic variants in EIF2S3. The gene encodes the γ subunit of the eukaryotic translation initiation factor‐2, eIF2, essential for protein… read more here.
Keywords: related eif2s3; spectrum physiological; insights related; phenotypic spectrum ... See more keywords