Browsing Harvard Medical School by Keyword "Autosomal Dominant Traits"

Now showing items 1-2 of 2

    • HD CAGnome: A Search Tool for Huntingtin CAG Repeat Length-Correlated Genes 

      Galkina, Ekaterina I.; Shin, Aram; Coser, Kathryn R.; Shioda, Toshi; Kohane, Isaac S.; Seong, Ihn Sik; Wheeler, Vanessa C.; Gusella, James F.; MacDonald, Marcy E.; Lee, Jong-Min (Public Library of Science, 2014)
      Background: The length of the huntingtin (HTT) CAG repeat is strongly correlated with both age at onset of Huntington’s disease (HD) symptoms and age at death of HD patients. Dichotomous analysis comparing HD to controls ...

    • OTX2 Duplication Is Implicated in Hemifacial Microsomia 

      Zielinski, Dina; Markus, Barak; Sheikh, Mona; Gymrek, Melissa; Chu, Clement; Zaks, Marta; Srinivasan, Balaji; Hoffman, Jodi D.; Aizenbud, Dror; Erlich, Yaniv (Public Library of Science, 2014)
      Hemifacial microsomia (HFM) is the second most common facial anomaly after cleft lip and palate. The phenotype is highly variable and most cases are sporadic. We investigated the disorder in a large pedigree with five ...