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

• Asıl Yazarlar: S. Mora-Martinez (Yazar), Natalia Castaño-Giraldo (Yazar), Humberto Alejandro Nati-Castillo (Yazar), Laura Barahona Machado (Yazar), Tatiana Mora Arbeláez (Yazar), G. Gordillo-Gonzalez (Yazar), Juan S. Izquierdo-Condoy (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Frontiers Media S.A., 2024-03-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...