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...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2021-03-01
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Series: | BMC Pediatrics |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12887-021-02582-7 |