FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature

• Principais autores: Elyssa Cannaerts (Autor), Anju Shukla (Autor), Mensuda Hasanhodzic (Autor), Maaike Alaerts (Autor), Dorien Schepers (Autor), Lut Van Laer (Autor), Katta M. Girisha (Autor), Iva Hojsak (Autor), Bart Loeys (Autor), Aline Verstraeten (Autor)
• Formato: Livro
• Publicado em: BMC, 2018-09-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background Mutations in the X-linked gene filamin A (FLNA), encoding the actin-binding protein FLNA, cause a wide spectrum of connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Males are typically more severely affected than females with common pre- or perin...