Exome sequencing findings in children with annular pancreas.

Molecular genetics & genomic medicine(2023)

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摘要
IQGAP1 and NRCAM are crucial in cell polarization and migration. Mutations result in decreased motility which could possibly cause the ventral bud to not migrate normally. To our knowledge, this is the first study reporting a possible association for IQGAP1 and NRCAM with AP. Our findings of rare genetic variants involved in cell migration in 15% of our population raise the possibility that AP may be related to abnormal cell migration.
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关键词
annular pancreas, cell migration, IQGAP1, malformation, NRCAM
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