Recurrent infections and short stature â listening may be the key. A Bloom syndrome case report

• Main Authors: Margarida Almendra (Author), Ana I. Cordeiro (Author), Rosa Pina (Author), Catarina Martins (Author), Conceição Neves (Author), João Farela-Neves (Author)
• Format: Book
• Published: Publicaciones Permanyer, 2024-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Introduction: Bloom syndrome is a rare autosomal recessive disorder characterized by chromosomal instability caused by mutations in the BLM gene that increase the risk of developing neoplasia, particularly at an early age. Bloom syndrome is typically characterized by short stature, photosensitivity,...