Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and li...
Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
Progressive lung involvement in Filamin A (FLNA)-related cerebral periventricular nodular heterotopia (PVNH) has been reported in a limited number of cases.
We report a new pathogenic FLNA gene variant (c.7391_7403del; p.Val2464Alafs*5) in a male infant who developed progressive lung disease with emphysematous lesions and interstitial involvemen...
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Full title
Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review
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TN_cdi_doaj_primary_oai_doaj_org_article_e7606642517d4add9ad0276ee916150c
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e7606642517d4add9ad0276ee916150c
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ISSN
1471-2431
E-ISSN
1471-2431
DOI
10.1186/s12887-019-1460-4
