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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Bibliographic Details
Main Authors: Shruti Bajaj, Fazal Nabi, Jhanvi Shah, Harsh Sheth
Format: Article
Language:English
Published: BMC 2021-03-01
Series:BMC Pediatrics
Subjects:
Online Access:https://doi.org/10.1186/s12887-021-02582-7