Identification of the < b > < i > TTC26 < /i > < /b > Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations

This report further strengthens the evidence that homozygous variants in theTTC26 gene cause severe ciliopathies with diverse phenotypes. We named this newly characterized condition as BRENS syndrome, which stands for biliary, renal, neurological, and skeletal features.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research