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
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
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
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