Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature

Ижил төстэй зүйлс

• Prenatal diagnosis of a novel pathogenic variation in the ACAN gene presenting with isolated shortening of fetal long bones in the second trimester of gestation: a case report
  -н: Paolo Toscano, зэрэг
  Хэвлэсэн: (2021-06-01)
• 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
  -н: Shuyun Deng, зэрэг
  Хэвлэсэн: (2022-10-01)
• 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
  -н: Tae Youp Kim, зэрэг
  Хэвлэсэн: (2020-07-01)
• GAGAUZ TÜRKÇESİNDE AÇAN EDATI İLE KURULMUŞ CÜMLELER
  -н: Nadejda CHİRLİ
  Хэвлэсэн: (2016-01-01)
• The Spectrum of ACAN Gene Mutations in a Selected Chinese Cohort of Short Stature: Genotype-Phenotype Correlation
  -н: Su Wu, зэрэг
  Хэвлэсэн: (2022-05-01)