Lung disease in FLNA mutation: Confirmatory report
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference7 articles.
1. Filamin A is required for T cell activation mediated by protein kinase C-theta;Hayashi;J. Immunol.,2006
2. Lung disease associated with periventricular nodular heterotopia and a FLNA mutation;Masurel-Paulet;Eur. J. Med. Genet.,2011
3. Cystic fibrosis transmembrane conductance regulator interacts with multiple immunoglobulin domains of filamin A;Playford;J. Biol. Chem.,2010
4. Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity;Robertson;Am. J. Med. Genet. A,2006
5. Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females;Sheen;Hum. Mol. Genet.,2001
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1. Periventricular nodular heterotopias is associated with mutation at the FLNA locus-a case history and a literature review;BMC Pediatrics;2023-07-08
2. Heterogenous Disease Course and Long-Term Outcome of Children’s Interstitial Lung Disease Related to Filamin A Gene Variants;Annals of the American Thoracic Society;2022-12
3. Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome;Orphanet Journal of Rare Diseases;2021-12
4. Application of lung volume reduction surgery for a child with filamin A (FLNA) mutations;Pediatric Pulmonology;2021-10-04
5. Diseases associated with mutations in the filamin A gene (FLNA);Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2021-07-01
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