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
Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures.
Garcia-Giralt N et al.
Human Genomics, 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
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
A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome.
Hung CY et al.
American Journal of Medical Genetics. Part A, 2019
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle_without_known
A case of Raine syndrome presenting with facial dysmorphy and review of literature.
Sheth J et al.
Bmc Medical Genetics, 2018
Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.
Clarke CM et al.
American Journal of Medical Genetics. Part A, 2018
Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.
Bagnall RD et al.
Bmc Medical Genetics, 2014
25224718 (PubMed )
Supplement: 12881_2014_99_MOESM2_ESM.xlsx › Supplementary_Table_2
The ABCs of the atypical Fam20 secretory pathway kinases.
Worby CA et al.
The Journal of Biological Chemistry, 0
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