Short stature is a frequent disorder in the pediatric population and can be caused by multiple factors. In the last few years, the introduction of Next Generation Sequencing (NGS) in the molecular diagnostic workflow led to the discovery of mutations in novel genes causing short stature including heterozygous mutations in ACAN gene. It encodes for aggrecan, a primary proteoglycan component specific for the structure of the cartilage growth plate, articular and intervertebral disc. We report a novel ACAN heterozygous pathogenic variant in a family with idiopathic short stature, early-onset osteoarthritis and osteoarthritis dissecans (SSOAOD). We also performed a literature review summarizing the clinical characteristic of ACAN's patients. Th...
Mutations in genes of importance for cartilage development may lead to skeletal malformations, chond...
Introduction Heterozygous variants in the ACAN gene may underlie disproportionate short stature wit...
The large chondroitin sulphated proteoglycan aggrecan (ACAN) is the most abundant non-collagenous pr...
Short stature is a frequent disorder in the pediatric population and can be caused by multiple facto...
Introduction: Aggrecanopathies are rare disorders associated with idiopathic short stature. They are...
Abstract Short stature is a common pediatric disorder affecting 3% of the population. However, the c...
OBJECTIVE: Mutations in the aggrecan gene (ACAN) have been identified in two autosomal dominant ske...
Aggrecan is a critical proteoglycan component of the extracellular matrix of the growth plates and a...
Background: Short stature is estimated to account for half of the new visits to pediatric endocrine ...
Mutations in the aggrecan gene (ACAN) have been identified in two autosomal dominant skeletal dyspla...
Heterozygous mutations of the ACAN gene have been associated with a broad spectrum of non-lethal ske...
Purpose: Few examples of the involvement of a single gene in idiopathic short stature have been desc...
Background: Some children born small for gestational age (SGA) show advanced bone age (BA) maturatio...
The cartilage aggrecan proteoglycan is crucial for both skeletal growth and articular cartilage func...
Abstract Background Mutations in the aggrecan (ACAN) gene can cause short stature (with heterogeneou...
Mutations in genes of importance for cartilage development may lead to skeletal malformations, chond...
Introduction Heterozygous variants in the ACAN gene may underlie disproportionate short stature wit...
The large chondroitin sulphated proteoglycan aggrecan (ACAN) is the most abundant non-collagenous pr...
Short stature is a frequent disorder in the pediatric population and can be caused by multiple facto...
Introduction: Aggrecanopathies are rare disorders associated with idiopathic short stature. They are...
Abstract Short stature is a common pediatric disorder affecting 3% of the population. However, the c...
OBJECTIVE: Mutations in the aggrecan gene (ACAN) have been identified in two autosomal dominant ske...
Aggrecan is a critical proteoglycan component of the extracellular matrix of the growth plates and a...
Background: Short stature is estimated to account for half of the new visits to pediatric endocrine ...
Mutations in the aggrecan gene (ACAN) have been identified in two autosomal dominant skeletal dyspla...
Heterozygous mutations of the ACAN gene have been associated with a broad spectrum of non-lethal ske...
Purpose: Few examples of the involvement of a single gene in idiopathic short stature have been desc...
Background: Some children born small for gestational age (SGA) show advanced bone age (BA) maturatio...
The cartilage aggrecan proteoglycan is crucial for both skeletal growth and articular cartilage func...
Abstract Background Mutations in the aggrecan (ACAN) gene can cause short stature (with heterogeneou...
Mutations in genes of importance for cartilage development may lead to skeletal malformations, chond...
Introduction Heterozygous variants in the ACAN gene may underlie disproportionate short stature wit...
The large chondroitin sulphated proteoglycan aggrecan (ACAN) is the most abundant non-collagenous pr...