Open access
Oct 2026
A Conformation-altering variant in TXNDC15 linked to Joubert syndrome
Ciliopathies are a group of genetic disorders resulting from defects in the primary cilia. Numerous mutations in cilia-associated proteins have been linked to these conditions. Here, we report a pediatric patient presenting clinical features consistent with Joubert Syndrome and genomic analyses revealing two compou...
Cristina Lázaro-Ruiz, Sergio Boneta, M. Palomares-Bralo et al.
· Scientific Reports · 0 citations