Event
Journal Club
Friday, June 3, 2005 09:00
Presenter #1: Nicholas Ah Mew, MD. "Genetic heterogeneity in Rubinstein-Taybi Syndrome: Mutations in both the CBP and EP300 genes cause disease." Ref: Roelfsema et al., AJHG 76(4): April 2005. Presenter #2: Maha Al-Awadi, MD. "Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, pareital foramina, imperforate anus, and skin eruption: CDAGS." Ref: Mendoza-Londono et al., AJHG 77: 2005.