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
Treatment of Short Stature in Aggrecan-deficient Patients With Recombinant Human Growth Hormone: 1-Year Response.
Muthuvel G et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Clinical phenotype and musculoskeletal characteristics of patients with aggrecan deficiency.
Alexandrou E et al.
American Journal of Medical Genetics. Part A, 2022
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
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