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
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
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
A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age.
Eltan M et al.
Calcified Tissue International, 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
Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).
Whyte MP et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2017
Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.
Simpson MA et al.
American Journal of Human Genetics, 2007
The ABCs of the atypical Fam20 secretory pathway kinases.
Worby CA et al.
The Journal of Biological Chemistry, 0
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