A Revealing Case of SHQ1-Related Neurodevelopmental Disorder: Expanding the Genotypic and Phenotypic Frontier
Published online on March 26, 2026
Abstract
Journal of Child Neurology, Ahead of Print.
SHQ1-related neurodevelopmental disorder is a rare autosomal recessive condition linked to disrupted ribosome biogenesis, telomerase activity, and RNA modification. Among the few reported cases, typical clinical presentations consist of early-onset ...
SHQ1-related neurodevelopmental disorder is a rare autosomal recessive condition linked to disrupted ribosome biogenesis, telomerase activity, and RNA modification. Among the few reported cases, typical clinical presentations consist of early-onset ...