Associated Papers
A frameshift mutation in the PRG4 gene causing camptodactyly-arthropathy-coxa vara-pericarditis syndrome: a case report.
Koyutourk B et al.
Modern Rheumatology Case Reports, 2025
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation.
Fiumara A et al.
European Journal of Medical Genetics, 2023
Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115.
Larsen LE et al.
Cellular and Molecular Gastroenterology and Hepatology, 2022
TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy.
Fang Y et al.
Frontiers in Genetics, 2022
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
Jansen JC et al.
American Journal of Human Genetics, 2016
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