Associated Papers
A Novel Homozygous Synonymous Variant in CCDC134 as a Cause of Osteogenesis Imperfecta Type XXII.
Ning H et al.
Clinical Genetics, 2025
Regulated N-glycosylation controls chaperone function and receptor trafficking.
Ma M et al.
Science (new York, N.y.), 2024
39509507 (PubMed )
Supplement: EMS202697-supplement-Supplementary_Materials.pdf
The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry.
Ali TM et al.
American Journal of Medical Genetics. Part A, 2022
Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta.
Holick MF et al.
Children (basel, Switzerland), 2021
Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.
Dubail J et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020
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