Associated Papers
FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes.
Palma-Lara I et al.
International Journal of Molecular Sciences, 2021
Nonlethal Raine Syndrome in a Newborn Boy Caused by a Novel FAM20C Variant.
Eras N et al.
Molecular Syndromology, 2021
Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification.
El-Dessouky SH et al.
Prenatal Diagnosis, 2020
Non-lethal Raine Syndrome in a Middle-Aged Woman Caused by a Novel FAM20C Mutation.
Mamedova E et al.
Calcified Tissue International, 2019
A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee.
Rolvien T et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2019
The ABCs of the atypical Fam20 secretory pathway kinases.
Worby CA et al.
The Journal of Biological Chemistry, 0
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