First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

• Autores principales: Anwar Baban (Autor), Monia Magliozzi (Autor), Bart Loeys (Autor), Rachele Adorisio (Autor), Viola Alesi (Autor), Aurelio Secinaro (Autor), Bernadette Corica (Autor), Luca Vricella (Autor), Harry C. Dietz (Autor), Fabrizio Drago (Autor), Antonio Novelli (Autor), Antonio Amodeo (Autor)
• Formato: Libro
• Publicado: BMC, 2018-09-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

Abstract Background Loeys-Dietz syndrome (LDS) is a rare multisystemic disorder characterized by vascular and skeletal abnormalities, with considerable intra- and interfamilial variability. Case presentation We report the case of an 8-year-old male with clinical features of two distinct genetic diso...