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
The Spectrum of ACAN Gene Mutations in a Selected Chinese Cohort of Short Stature: Genotype-Phenotype Correlation.
Wu S et al.
Frontiers in Genetics, 2022
35620465 (PubMed )
Supplement: DataSheet1.XLSX › STab2
Description of the molecular and phenotypic spectrum in Chinese patients with aggrecan deficiency: Novel ACAN heterozygous variants in eight Chinese children and a review of the literature.
Deng S et al.
Frontiers in Endocrinology, 2022
A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature.
Crippa M et al.
Journal of Endocrinological Investigation, 2018
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.
Hauer NN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.
Hauer NN et al.
Scientific Reports, 2017
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