@hoffsbeefs I'm familiar with 2 examples in Van Der Woude syndrome https://t.co/186cweSAMq and Dravet Syndrome https://t.co/u7XXKggVcG. But you have no idea how many times a pair of discordant MZ twins has come into a study, gotten sequenced, and come up e
RT @DrChromo: And a caveat: some neurodevelopmental conditions are likely to have an elevated mutation rate and there are examples of disco…
And a caveat: some neurodevelopmental conditions are likely to have an elevated mutation rate and there are examples of discordance being due to a single mutation (e.g. epilepsy). https://t.co/yFAAFQqX42
OK I found 2nd example in Dravet syndrome. In this case, the gene was known prior to the study, so it doesn't really count as a home run. https://t.co/NZJAEhOCxl