Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients
Abstract Background Cornelia de Lange syndrome (CdLS), a rare, multisystemic disorder, has been linked to genetic alterations in NIPBL, SMC1A, SMC3, HDAC8, and RAD21 genes. Approximately 60% of CdLS patients harbor various NIPBL variants. Genetic changes predicted to affect NIPBL gene splicing repre...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
BMC,
2019-01-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |