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Article

Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report.

BMC pediatrics - 6 Mar 2021

Bajaj Shruti, Nabi Fazal, Shah Jhanvi, Sheth Harsh

Abstract excerpt

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 characterized by distinctive facial features, generalized osteosclerosis and respiratory insufficiency along with periosteal bone...

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Abnormalities, Multiple
Casein Kinase I
Cleft Palate
Extracellular Matrix Proteins
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33676444
DOI: 10.1186/s12887-021-02582-7
PMCID: PMC7936445

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