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
Clinical and Molecular Genetic Characteristics of Patients with Hereditary Hypophosphatemia.
Eltan M et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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
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
Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia.
Kinoshita Y et al.
Bone, 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
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