RASopathies due to de novo pathogenic variants: clinical features, genetic findings and outcomes in nine neonates born with congenital heart defects
Abstract Background There are limited information available related to neonatal characteristics of RASopathies, a group of autosomal dominant syndromes with considerable phenotypic overlap. Methods The retrospective review revealed 9 neonates born with congenital heart defects (CHDs) and diagnosed a...
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| Main Authors: | , , , |
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| Format: | Book |
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BMC,
2022-08-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |