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IDENTIFICATION A TBX4 MUTATION IN A NEONATE WITH ACINAR DYSPLASIA BY RAPID EXOME SEQUENCING
We describe a neonate with severe respiratory failure due to acinar dysplasia found by rapid exome sequencing, to have a deletion containing the TBX4 gene. Rapid exome sequencing can affect patient management in the ICU and should be considered in concert with lung biopsy in neonates with undifferen...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7738195/ https://ncbi.nlm.nih.gov/pubmed/30828993 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61096 |
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