Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

• Main Authors: Gloria Pelizzo (Author), Mirella Collura (Author), Aurora Puglisi (Author), Maria Pia Pappalardo (Author), Emanuele Agolini (Author), Antonio Novelli (Author), Maria Piccione (Author), Caterina Cacace (Author), Rossana Bussani (Author), Giovanni Corsello (Author), Valeria Calcaterra (Author)
• Format: Book
• Published: BMC, 2019-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Progressive lung involvement in Filamin A (FLNA)-related cerebral periventricular nodular heterotopia (PVNH) has been reported in a limited number of cases. Case presentation We report a new pathogenic FLNA gene variant (c.7391_7403del; p.Val2464Alafs*5) in a male infant who deve...