Skip to content
CheckOrphan
  • Home
  • About Us
  • Log In
  • News
    • All News
    • Finance
    • Treatment
    • People
    • Research
  • Videos
  • Treatments
  • Clinical Trials
  • Access Programs
    • About Access Programs
  • Diseases
  • Events
  • Networks
  • Research
Main Menu

Subscribe for Free Newsletter

Email *

Type *

* Required Field
Email Marketing Services by Benchmark

Generate RSS

  1. Home
  2. /
  3. Disease
  4. /
  5. Spondyloepimetaphyseal dysplasia

Spondyloepimetaphyseal dysplasia

December 31, 2014

Latest Research

  • <em>EXOC6B</em>-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity
  • <em>MBTPS1</em>-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes
  • A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia
  • Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature
  • B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum
More Research
pw

About CheckOrphan

CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
Click here to know more About Us

Your email is important to us

Each email is sent to a CheckOrphan staff member and will be answered. We only use a contact form to avoid spam.

    Copyright © 2025 CheckOrphan.
    Developed by: Gonza.io logo Developed by: WebOptimalSolutions Powered by: Cloudscale logo