A Newly Identified YIF1B Frameshift Variant Causing Kaya-Barakat-Masson Syndrome
Published online on August 14, 2026
Abstract
Journal of Child Neurology, Ahead of Print.
BackgroundKaya-Barakat-Masson syndrome (KABAMAS) is a recently described autosomal recessive neurodevelopmental disorder caused by biallelic pathogenic variants inYIF1B, a gene crucial for trafficking between the endoplasmic reticulum and the Golgi ...
BackgroundKaya-Barakat-Masson syndrome (KABAMAS) is a recently described autosomal recessive neurodevelopmental disorder caused by biallelic pathogenic variants inYIF1B, a gene crucial for trafficking between the endoplasmic reticulum and the Golgi ...