Associated Papers
Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review.
Tang W et al.
Molecular Genetics & Genomic Medicine, 2024
Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan.
Stattin EL et al.
Scientific Reports, 2022
35338222 (PubMed )
Supplement: 41598_2022_9211_MOESM1_ESM.pdf
Identification of novel ACAN mutations in two Chinese families and genotype-phenotype correlation in patients with 74 pathogenic ACAN variations.
Wei M et al.
Molecular Genetics & Genomic Medicine, 2021
High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature.
Stavber L et al.
European Journal of Endocrinology, 2020
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