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. Opthalmic icthyosis

Opthalmic icthyosis

December 31, 2014

Latest Research

  • <em>Snap29</em> mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome
  • A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
  • A novel claudin-10 mutation with a unique mechanism in two unrelated families with HELIX syndrome
  • A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response
  • ABHD5 stimulates PNPLA1-mediated ω-<em>O</em>-acylceramide biosynthesis essential for a functional skin permeability barrier
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