Associated Papers
An Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum.
Au CW et al.
American Journal of Medical Genetics. Part A, 2026
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
Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases.
Sivakumaran TA et al.
Genetics in Medicine Open, 2025
Gingival proteomics reveals the role of TGF beta and YAP/TAZ signaling in Raine syndrome fibrosis.
Costa CRR et al.
Scientific Reports, 2024
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
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
Non-lethal Raine Syndrome Report Lacking Characteristic Clinical Features.
Ferreira LD et al.
Journal of Molecular Neuroscience : Mn, 2021
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
A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age.
Eltan M et al.
Calcified Tissue International, 2020
A case of Raine syndrome presenting with facial dysmorphy and review of literature.
Sheth J et al.
Bmc Medical Genetics, 2018
The secretory pathway kinases.
Sreelatha A et al.
Biochimica Et Biophysica Acta, 2015
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.
Acevedo AC et al.
Bmc Medical Genetics, 2015
The ABCs of the atypical Fam20 secretory pathway kinases.
Worby CA et al.
The Journal of Biological Chemistry, 0