Associated Papers
FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype.
Arduç A et al.
Clinical Genetics, 2025
Deficiency of Fam20b-Catalyzed Glycosaminoglycan Chain Synthesis in Neural Crest Leads to Cleft Palate.
Chen X et al.
International Journal of Molecular Sciences, 2023
Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis.
Mizumoto S et al.
Frontiers in Genetics, 2021
A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia.
Kuroda Y et al.
Clinical Genetics, 2019
The ABCs of the atypical Fam20 secretory pathway kinases.
Worby CA et al.
The Journal of Biological Chemistry, 0
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