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Results 1 - 7 of 7 for Christianson syndrome
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  1. Christianson syndrome 
    Christianson syndrome is a disorder that primarily affects the nervous system. This condition becomes apparent in infancy. Its characteristic features include delayed ...
    https://medlineplus.gov/genetics/condition/christianson-syndrome - Genetics
  2. SLC9A6 gene 
    ... trafficking). Mutations in the SLC9A6 gene lead to Christianson syndrome. This condition is characterized by neurological problems, including ... pH leads to neurological problems in people with Christianson syndrome. Some studies have shown that protein trafficking by ...
    https://medlineplus.gov/genetics/gene/slc9a6 - Genetics
  3. HDAC8 gene 
    ... Bowman CM, Moser JA, Christianson KE, Deardorff MA, Christianson DW. Compromised structure and function of HDAC8 mutants identified in Cornelia de Lange Syndrome spectrum disorders. ACS Chem Biol. 2014 Sep 19; ...
    https://medlineplus.gov/genetics/gene/hdac8 - Genetics
  4. Cornelia de Lange syndrome 
    ... JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature. 2012 Sep ...
    https://medlineplus.gov/.../condition/cornelia-de-lange-syndrome - Genetics
  5. Proximal 18q deletion syndrome 
    ... or Free article on PubMed Central Tinkle BT, Christianson CA, Schorry EK, Webb T, Hopkin RJ. Long-term survival in a patient with del(18)(q12.2q21.1). Am J Med Genet A. 2003 May 15;119A(1):66-70. doi: 10.1002/ajmg.a.10217. Citation on PubMed
    https://medlineplus.gov/.../condition/proximal-18q-deletion-syndrome - Genetics
  6. Clouston syndrome 
    ... Sheeran AD, Stephan ML, Gosselin R, Kelsell DP, Christianson AL, Fraser FC, Der Kaloustian VM, Rouleau GA. ... Zonana J, Antonarakis S, Radhakrishna U, Kelsell DP, Christianson AL, Pitaval A, Der Kaloustian V, Fraser C, ...
    https://medlineplus.gov/genetics/condition/clouston-syndrome - Genetics
  7. GJB6 gene 
    ... Shimomura Y. GJB6, of which mutations underlie Clouston syndrome, is a potential ... R, Kelsell DP, Christianson AL, Fraser FC, Der Kaloustian VM, Rouleau GA. ...
    https://medlineplus.gov/genetics/gene/gjb6 - Genetics