Associated Papers
Mutational analysis of consanguineous families and their targeted therapy against dwarfism.
Khan F et al.
Journal of Biomolecular Structure & Dynamics, 2025
Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review.
Tang W et al.
Molecular Genetics & Genomic Medicine, 2024
Analysis of children with familial short stature: who should be indicated for genetic testing?
Plachy L et al.
Endocrine Connections, 2023
37561071 (PubMed )
Supplement: supplementary_table_2.pdf
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
35620465 (PubMed )
Supplement: DataSheet1.XLSX › STab2
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
High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH.
Plachy L et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
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
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
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