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

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

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...

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Bibliographic Details
Main Authors: Gloria Pelizzo, Mirella Collura, Aurora Puglisi, Maria Pia Pappalardo, Emanuele Agolini, Antonio Novelli, Maria Piccione, Caterina Cacace, Rossana Bussani, Giovanni Corsello, Valeria Calcaterra
Format: Article
Language:English
Published: BMC 2019-03-01
Series:BMC Pediatrics
Subjects:
Filamin a
Congenital enphysema
Lung disease
Children
Periventricular nodular heterotopia
Online Access:http://link.springer.com/article/10.1186/s12887-019-1460-4

Internet

http://link.springer.com/article/10.1186/s12887-019-1460-4

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