Associated Papers
Expanding the molecular spectrum of aggrecanopathies: exploring 24 patients with ACAN significant variants.
Trigui M et al.
European Journal of Human Genetics : Ejhg, 2025
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3
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
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
Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets.
Schulze K et al.
Nature Genetics, 2015
25822088 (PubMed )
Supplement: NIHMS62359-supplement-Table3.xlsx › SuppTable_3b_CHC892T
Select a paper to view details