Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report
Cornelia de Lange's syndrome (CDLS) is a multisystem genetic syndrome characterized by well-defined physical, intellectual, and behavioral characteristics. The diagnosis of CDLS is typically done clinically after birth; however, recent studies have demonstrated the ability to use prenatal ultra...
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| Main Authors: | , , , |
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| Format: | Book |
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Thieme Medical Publishers, Inc.,
2024-01-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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