Novel pathogenic ACAN variants in non-syndromic short stature patients

2017/04/07 by Xuyun Hu, Baoheng Gui, Jiasun Su +17 · 20 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Connective tissue disorders research #Ubiquitin and proteasome pathways #Bone health and treatments

paper · doi:10.1016/j.cca.2017.04.004

Cited by

• Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature. [europepmc]
• Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children. [europepmc]
• Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients. [europepmc]
• Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency. [europepmc]
• High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature. [europepmc]
• Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders. [europepmc]
• Short stature with precocious puberty caused by aggrecan gene mutation: A case report. [europepmc]
• 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. [europepmc]
• A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children. [europepmc]
• Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature. [europepmc]
• Identification of novel ACAN mutations in two Chinese families and genotype-phenotype correlation in patients with 74 pathogenic ACAN variations. [europepmc]
• Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families. [europepmc]
• Evaluation of Growth Hormone Therapy in Seven Chinese Children With Familial Short Stature Caused by Novel ACAN Variants. [europepmc]
• The Spectrum of ACAN Gene Mutations in a Selected Chinese Cohort of Short Stature: Genotype-Phenotype Correlation. [europepmc]
• Pathogenesis of Choledochal Cyst: Insights from Genomics and Transcriptomics. [europepmc]
• 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. [europepmc]
• Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review. [europepmc]
• [Discussion on the genetic mechanisms and efficacy of growth hormone therapy in children with idiopathic short stature]. [europepmc]
• Aggrecanopathy as an Underrecognized Cause of Idiopathic Short Stature: The Importance of Early Genetic Confirmation for Timely Diagnosis and Management-Case Reports and Literature Review. [europepmc]
• Research progress of short stature and advanced bone age, early-onset osteoarthritis and osteochondritis dissecans (SSOAOD) caused by acan gene mutation. [europepmc]