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#RareDiseasesNews: A little boy was undiagnosed until the age of 4 and then in 1 day a geneticist solved a great puzzle. A new syndrome was discovered and a family finally got some answers. There are still no therapies, the syndrome does not even have a name yet, but the diagnosis gave the family some confort and a path to follow! #DiagnosisMatters! Read the full story HERE 
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November 2017
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- About
-
Research
- WP1 executive commitee
- WP2 CDG Diagnosis
- WP3 CDG Genetics
- WP4 Biology to guide CDG therapies >
- WP5 SYSTEMS BIOLOGY AND BIOINFORMATICS >
- WP6 CLINICAL AND THERAPEUTIC CDG RESEARCH >
- WP7 CDG psychology and educational research >
- WP8 CDG Lobby and Representation >
- WP9 Communication and Dissemination >
- WP10 Donations & Funds
- WP11 Collaborations and Open positions
- WP12 CDG & Allies Community Advisory Committee
- Resources
- Donate
- Blog
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