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NAGATA Satoru
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Professor and Division head |
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| Article types | Case report |
| Language | English |
| Peer review | Non peer reviewed |
| Title | Microdeletion in Xq28 with a polymorphic inversion in a patient with FLNA-associated progressive lung disease. |
| Journal | Formal name：Respiratory investigation Abbreviation：Respir Investig ISSN code：22125353/22125345 |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 57(4),pp.395-398 |
| Author and coauthor | Hirasawa Kyoko, Ito Susumu, Osawa Makiko, Nagata Satoru |
| Authorship | Last author |
| Publication date | 2019/07 |
| Summary | Lung phenotype was reported as a novel phenotype in patients with mutations in the filamin A gene (FLNA) in 2011. FLNA mutations can result in pulmonary hyperinflation during the neonatal period or early infancy with progressive respiratory failure, culminating in a diagnosis of FLNA-associated progressive lung disease, particularly if the patient has periventricular nodular heterotopia and cardiac complications, such as patent ductus arteriosus, atrial septal defect, and pulmonary hypertension. We report the first Japanese case of FLNA-associated progressive lung disease caused by a microdeletion in Xq28 encompassing the FLNA gene with a polymorphic inversion. |
| DOI | 10.1016/j.resinv.2019.02.008 |
| PMID | 30987847 |