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Aicardi Goutieres syndrome "1," autosomal dominant
Did you mean Aicardi goiters syndrome "1," autosomal dominant?
- ... been found in people with a disorder called autosomal dominant retinal ... exonuclease 1 enzyme may cause immune system dysfunction that damages ...
- ... in the ADAR, LSM11, RNASEH2A, RNASEH2B, RNASEH2C, RNU7-1, SAMHD1, and TREX1 ... in an autosomal dominant pattern, which means one copy of the altered ...
- Leukodystrophies (National Library of Medicine)What are leukodystrophies? Leukodystrophies are a group of rare genetic disorders that affect the central nervous system (CNS). The CNS is made up of your ...
- ... 006. Citation on PubMed Fertleman CR, Ferrie CD, Aicardi J, Bednarek ... familial rectal pain syndrome). Neurology. 2007 Aug 7;69(6):586-95. ...