A severe early presentation of cystic fibrosis in an infant with a homozygous c.1375_1383del CFTR variant- a case report
BackgroundCystic fibrosis is a genetic disease affecting mainly the respiratory and digestive systems through CFTR gene mutations. The condition is characterized by the production of thick mucus, which can lead to severe respiratory complications and pancreatic insufficiency.We report a rare homozyg...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2025-08-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1643050/full |
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