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Two siblings with a homozygous EEF1B2 loss-of-function variant: expanding the phenotypic spectrum of EEF1B2-related

Serap Ketenci-İşlek1, Gizem Ürel-Demir2, Gülen Eda Utine2

  • 1Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey. serapislek08@gmail.com.

Neurogenetics
|January 14, 2026
PubMed
Abstract

No abstract available in PubMed .

Keywords:
EEF1B2Global developmental delayIntellectual disability

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