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

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...

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Detalles Bibliográficos
Autores principales: Bajaj, Shruti, Nabi, Fazal, Shah, Jhanvi, Sheth, Harsh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7936445/
https://www.ncbi.nlm.nih.gov/pubmed/33676444
http://dx.doi.org/10.1186/s12887-021-02582-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7936445/
https://www.ncbi.nlm.nih.gov/pubmed/33676444
http://dx.doi.org/10.1186/s12887-021-02582-7

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