APCDG - Congenital Disorders of Glycosylation
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Genomic imprinting and Rare Diseases: A silent combination

19/1/2017

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What do Silver-Russell syndrome and Beckwith-Wiedemann syndrome have in common?
Have your heard about genomic imprinting? It is an epigenetic mechanism through which a certain gene(s) is silenced or expressed in a parent-specific manner.
​
Another outstanding example of how Rare Diseases' Research can drastically improve knowlege 
 http://bit.ly/2jAP4XP
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  • About US
    • What we do
    • Who we help
  • Research
  • Resources
    • Publications
    • Task Force CDG Communication >
      • ALG1-CDG (CDG Ik)
      • PMM2-CDG (CDG Ia)
      • PGM1-CDG (CDG It)
      • ALG6-CDG (CDG Ic)
  • EDUCATION
  • Awareness
    • Get involved World CDG Awareness Day 2018 >
      • Go Social World CDG Awareness Day
      • Spread World CDG Awareness Day
      • Plan An Event World CDG Awareness Day
      • Frame your CDG Awareness Campaign
      • Volunteer World CDG Awareness Day
      • Press kit World CDG Awareness Day
    • Map of events for World CDG Awareness Day 2018
    • Awareness Day 2017
    • Awareness Day 2016
    • Rare Diseases
  • Community
    • Join Us - Membership
    • CDG Patient Groups
    • Empowerment
  • Events
    • Speakers - World Conference on CDG
    • Registrations - World Conference on CDG
    • Follow up - World Conference on CDG
  • DONATE
  • BLOG
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