This study aims to identify and describe a novel heterozygous variant in the SOS1 gene associated with syndromic conditions.
Genetic analysis of the SOS1 gene variant.
Clinical assessment of symptoms related to syringomyelia and Chiari I malformation.
Identification of a novel heterozygous SOS1 variant.
Association with syringomyelia and Chiari I malformation observed.
Abstract
The authors declare no conflicts of interest. The data that support the findings of this study are available from the corresponding author upon reasonable request.