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

Neurogenetics 2026

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Authors: Serap Ketenci İşlek, Gizem Ürel Demir, Gülen Eda Ütine, Pelin Özlem Şimşek‐Kiper

DOI: 10.1007/s10048-025-00877-w

Cited by: 0

References: 15

Fields of Study & Subjects

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases RNA and protein synthesis mechanisms

References 15