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
Case report: A novel heterozygous frameshift mutation of ACAN in a Chinese family with short stature and advanced bone age.
Huang H et al.
Frontiers in Genetics, 2023
Short stature associated with a novel mutation in the aggrecan gene: A case report and literature review.
Yin LP et al.
World Journal of Clinical Cases, 2022
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
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
Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children.
Xu D et al.
Bmc 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
28939912 (PubMed )
Supplement: 41598_2017_12465_MOESM1_ESM.pdf
Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation.
Dateki S et al.
Journal of Human Genetics, 2017
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
Gkourogianni A et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
ACAN mutations as a cause of familial short stature.
Dateki S
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2017
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