Associated Papers
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
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
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
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
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
The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases.
Gibson BG et al.
Orphanet Journal of Rare Diseases, 2016
Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.
Nilsson O et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
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