What's New

Last Posted: Mar 15, 2023

• SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.
  Silveira Cynthia, et al. Molecular syndromology 2023 0 (6) 485-495
• Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.
  Shelihan Ivan, et al. Human genetics 2018 0 (11-12) 905-909
• Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia.
  Dasa Vinod, et al. American journal of medical genetics. Part A 2019 0 (4) 534-541
• Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants.
  Liang Hanting, et al. Calcified tissue international 2021 0 (3) 313-323
• Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects.
  Orlov Igor E, et al. European journal of medical genetics 2022 0 (2) 104426
• Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study.
  Seo Sang Gyo, et al. BMC musculoskeletal disorders 2014 0 (1) 84
• Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
  Kim Ok-Hwa, et al. American journal of medical genetics. Part A 2011 11 (11) 2669-80
• Multiple epiphyseal dysplasia
  From NCATS Genetic and Rare Diseases Information Center
• Multiple epiphyseal dysplasia 1
  From NCATS Genetic and Rare Diseases Information Center
• Multiple epiphyseal dysplasia 2
  From NCATS Genetic and Rare Diseases Information Center
• Multiple epiphyseal dysplasia 3
  From NCATS Genetic and Rare Diseases Information Center
• Multiple epiphyseal dysplasia 4
  From NCATS Genetic and Rare Diseases Information Center
• Multiple epiphyseal dysplasia 5
  From NCATS Genetic and Rare Diseases Information Center
• Multiple epiphyseal dysplasia 6
  From NCATS Genetic and Rare Diseases Information Center
• Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations.
  Mabuchi Akihiko, et al. American journal of medical genetics. Part A 2004 8 (1) 35-8
• Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.
  Jakkula Eveliina, et al. European journal of human genetics : EJHG 2005 3 (3) 292-301
• Identification of sequence polymorphisms of the COMP (cartilage oligomeric matrix protein) gene and association study in osteoarthrosis of the knee and hip joints.
  Mabuchi A, et al. Journal of human genetics 2001 0 (8) 456-62