Associated Papers
FAM20C and FAM20A in normal and ectopic mineralization: A focus on oro-renal syndromes.
Baker A et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2025
Congenital disorders caused by aberrations in the biosynthesis of chondroitin/dermatan sulfate.
Mikami T et al.
Journal of Human Genetics, 2025
Raine's syndrome: rare disease from neurosurgical perspective.
Elmaghraby M et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2024
Mutations of family with sequence similarity 20-member C gene causing lethal and nonlethal Raine syndrome causes hypophosphatemia rickets.
Liu P et al.
Journal of Cellular Physiology, 2023
Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis.
Palma-Lara I et al.
International Journal of Molecular Sciences, 2023
Compound heterozygous FAM20C gene variants in a patient with severe Raine syndrome: a case report.
Chirteș C et al.
Frontiers in Genetics, 2023
Altered sulfation status of FAM20C-dependent chondroitin sulfate is associated with osteosclerotic bone dysplasia.
Koike T et al.
Nature Communications, 2022
FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes.
Palma-Lara I et al.
International Journal of Molecular Sciences, 2021
Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report.
Bajaj S et al.
Bmc Pediatrics, 2021
Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification.
El-Dessouky SH et al.
Prenatal Diagnosis, 2020
Natural history of non-lethal Raine syndrome during childhood.
Mameli C et al.
Orphanet Journal of Rare Diseases, 2020
Two Novel FAM20C Variants in A Family with Raine Syndrome.
Hernández-Zavala A et al.
Genes, 2020
A case of Raine syndrome presenting with facial dysmorphy and review of literature.
Sheth J et al.
Bmc Medical Genetics, 2018
FAM20A mutations associated with enamel renal syndrome.
Wang SK et al.
Journal of Dental Research, 2014
Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification.
Rafaelsen SH et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2013
The ABCs of the atypical Fam20 secretory pathway kinases.
Worby CA et al.
The Journal of Biological Chemistry, 0