Anthony V. Basta

Witteveen-Kolk Syndrome: Two Patients With Craniofacial Features and Novel SIN3A Variants.

Witteveen-Kolk syndrome (WKS) is a rare autosomal dominant neurodevelopmental disorder caused by pathogenic SIN3A variants, with diagnosis complicated by variable physical findings. We describe two unrelated patients with de novo SIN3A variants identified through trio whole exome sequencing, expanding the phenotype of...