A 45-year-old Italian male with p.(Gly1815Ser) FBN1 mutation causing a mild variant of Marfan syndrome: A case study

• Main Authors: Francesca Cortini (Author), Chiara Villa (Author), Barbara Marinelli (Author), Sara Franchetti (Author), Luciano Riboldi (Author), Alessandra Bassotti (Author)
• Format: Book
• Published: Wolters Kluwer Medknow Publications, 2020-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

A 45-year-old Italian male was referred as suspected of having a heritable connective tissue disorders by clinical findings, including joint hyperlaxity and soft, smooth, velvety, and slightly elastic skin. Using a specific custom panel including genes involved in these disorders, next-generation se...