ABCA3 deficiency from birth to adulthood presenting as paediatric interstitial lung disease
Abstract Paediatric disorders of pulmonary surfactant may occur due to mutations involving surfactant proteins B and C, and ATP‐binding cassette subfamily A member 3 (ABCA3) genes. Recessive frameshift or nonsense ABCA3 mutations are associated with respiratory failure and neonatal death but milder...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-10-01
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| Series: | Respirology Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/rcr2.633 |