Baller-Gerold Syndrome. About a Clinical Case and Review of the Literature

• Glavni autori: Anolys Narciso Piña Rodríguez (Autor), Osiris Intento García (Autor), Sady Montes Amador (Autor)
• Format: Knjiga
• Izdano: Universidad de las Ciencias Médicas de Cienfuegos, 2022-12-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

Baller-Gerold syndrome is secondary to mutations in the RECQL4 gene (8q24.3). This gene belongs to the RecQhelicase family and is implicated in other diseases predisposing to cancer. Diagnosis is based on clinical criteria and due to the high number of differential diagnoses, finding a mutation in t...