Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report
Abstract Background Bi-allelic mutations in FAM20C gene are known to cause a rare genetic disorder- Raine syndrome (RS). The FAM20C protein binds calcium and phosphorylates proteins involved in biomineralization of bones and teeth. RS is recognized as an osteosclerotic bone dysplasia. It is characte...
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| Main Authors: | , , , |
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| Format: | Book |
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BMC,
2021-03-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |