A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report
Abstract Background Oculo-facio-cardio-dental syndrome is a rare X-linked dominant syndrome, characterized by radiculomegaly, congenital cataracts, dysmorphic facial features, and congenital heart disease. Because of the rarity, this syndrome could be misdiagnosed by the clinician, especially for th...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
BMC,
2022-02-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |