Case Report: Expanding the phenotypic spectrum of PURA syndrome in South America with the first presentation of concurrent vitiligo

• Main Authors: S. Mora-Martinez (Author), Natalia Castaño-Giraldo (Author), Humberto Alejandro Nati-Castillo (Author), Laura Barahona Machado (Author), Tatiana Mora Arbeláez (Author), G. Gordillo-Gonzalez (Author), Juan S. Izquierdo-Condoy (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Purine-rich element-binding protein A (PURα) regulates multiple cellular processes. Rare de novo mutations can lead to PURA syndrome, which manifests as a range of multisystem disturbances, including hypotonia, global developmental delay, swallowing disorders, apnea, seizures, visual impairments, an...