Novel ABCA3 mutations as a cause of respiratory distress in a term newborn
We report here the case of a term female newborn that developed severe respiratory distress soon after birth. She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene. ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrom...
| Autor principal: | |
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| Outros Autores: | , , , , |
| Formato: | article |
| Idioma: | eng |
| Publicado em: |
2013
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| Assuntos: | |
| Texto completo: | http://hdl.handle.net/10400.23/556 |
| País: | Portugal |
| Oai: | oai:repositorio.hospitaldebraga.pt:10400.23/556 |