Open access
Oct 2026
Expanding the Phenotypic Spectrum of TXNDC15-Related Ciliopathies to Include Joubert Syndrome.
Biallelic loss-of-function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)-resident thioredoxin-domain protein required for ciliary transition zone integrity. Many ciliopathy genes show a spectrum of severity, producing a cl...
Z. Sentell, Rob Geraghty, Juliana E. Arcila-Galvis et al.
· American Journal of Medical... · 0 citations