FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes

FAM20C is a gene coding for a protein kinase that targets S-X-E/pS motifs on different phosphoproteins belonging to diverse tissues. Pathogenic variants of FAM20C are responsible for Raine syndrome (RS), initially described as a lethal and congenital osteosclerotic dysplasia characterized by general...

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Detalles Bibliográficos
Autores principales: Palma-Lara, Icela, Pérez-Ramírez, Monserrat, García Alonso-Themann, Patricia, Espinosa-García, Ana María, Godinez-Aguilar, Ricardo, Bonilla-Delgado, José, López-Ornelas, Adolfo, Victoria-Acosta, Georgina, Olguín-García, María Guadalupe, Moreno, José, Palacios-Reyes, Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8348777/
https://www.ncbi.nlm.nih.gov/pubmed/34360805
http://dx.doi.org/10.3390/ijms22158039

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8348777/
https://www.ncbi.nlm.nih.gov/pubmed/34360805
http://dx.doi.org/10.3390/ijms22158039

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