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Journal Club

Vendredi, 3 juin, 2005 09:00
Communication 1 : Nicholas Ah Mew, M. D. « Genetic heterogeneity in Rubinstein-Taybi Syndrome: Mutations in both the CBP and EP300 genes cause disease. » Ref: Roelfsema et al., AJHG 76(4): Avril 2005. Communication 2 : Maha Al-Awadi, M. D. « 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.
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