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...
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 |
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Format: | Article |
Language: | English |
Published: |
BMC
2019-03-01
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Series: | BMC Pediatrics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12887-019-1460-4 |
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