Anastasia-E Kostantinidou

Two Truncating MITF Variants Expand the Phenotypic Spectrum of COMMAD Syndrome.

Pathogenic variants in MITF (Microphthalmia Transcription Factor) gene are associated with a spectrum of disorders, including Waardenburg syndrome type II and Tietz syndrome. Rare reports suggest that biallelic loss-of-function variants may result in a severe multisystem phenotype. We report an infant presenting with a...