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
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
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.
Palmieri F et al.
Biomolecules, 2020
32340404 (PubMed )
Supplement: biomolecules-10-00655-s001.pdf
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