The Spectrum of ACAN Gene Mutations in a Selected Chinese Cohort of Short Stature: Genotype-Phenotype Correlation
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.891040
Abstract: Objective: Mutations in the ACAN gene have been reported to cause short stature. However, the prevalence estimates of pathogenic ACAN variants in individuals with short stature vary, and the correlation between ACAN genotype and clinical… read more here.
Keywords: acan gene; bone age; stature; short stature ... See more keywords
The relationship between the aggrecan VNTR polymorphism and its content in lumbar intervertebral discs.
Sign Up to like & getrecommendations! Published in 2022 at "Folia morphologica"
DOI: 10.5603/fm.a2022.0019
Abstract: BACKGROUND There is a specific polymorphism of the ACAN gene called the VNTR (variable number of tandem repeats), which is particularly interesting in the light of the development of intervertebral disc pathology and associated low… read more here.
Keywords: vntr polymorphism; acan gene; relationship; intervertebral discs ... See more keywords