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Article

Genomic instability in congenital lung malformations in children.

Pediatric surgery international - 5 Sept 2024

Rodrigues de Moura Ronald, Patrizi Sara, Athanasakis Emmanouil, Schleef Jurgen, Pederiva Federica, d'Adamo Adamo Pio

Abstract excerpt

PURPOSE: To study the biological relationship between congenital lung malformations (CLMs) and malignancy. METHODS: Biopsies of 12 CPAMs, 6 intralobar sequestrations and 2 extralobar sequestrations were analyzed through whole-genome sequencing. Blood samples from 10 patients were used to confirm or exclude somatic mosaicism. Putative somatic Single Nucleotide Variants (SNVs) were called for each malformed sample...

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PMID: 39237666
DOI: 10.1007/s00383-024-05835-5

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