Associated Papers
Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review.
Tang W et al.
Molecular Genetics & Genomic Medicine, 2024
Short stature associated with a novel mutation in the aggrecan gene: A case report and literature review.
Yin LP et al.
World Journal of Clinical Cases, 2022
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
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
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
Identification of novel ACAN mutations in two Chinese families and genotype-phenotype correlation in patients with 74 pathogenic ACAN variations.
Wei M et al.
Molecular Genetics & Genomic Medicine, 2021
[Clinical and genetic analysis of five Chinese pedigrees affected with short stature due to variants of ACAN gene].
Wang X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021
Identification of a heterozygous ACAN mutation in a 15-year-old boy with short stature who presented with advanced bone age: a case report and review of the literature.
Kim TY et al.
Annals of Pediatric Endocrinology & Metabolism, 2020
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
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.
Hauer NN et al.
Scientific Reports, 2017
Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation.
Dateki S et al.
Journal of Human Genetics, 2017
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
ACAN mutations as a cause of familial short stature.
Dateki S
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 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