RT @AJHGNews: Up next in the Auditorium, Nolwenn Jean-Marcais describes a recurrent de novo PACS2 variant that causes developmental and epi…
10 followers
10,127 followers
Up next in the Auditorium, Nolwenn Jean-Marcais describes a recurrent de novo PACS2 variant that causes developmental and epileptic encephalopathy #ESHG2018 https://t.co/j0lDhZBhxF
427 followers
RT @DrDuddingbyth: Olson et al report 14 unrelated individuals with a recurrent denovo PACS2 heterozygous missense variant affected with de…
427 followers
Olson et al report 14 unrelated individuals with a recurrent denovo PACS2 heterozygous missense variant affected with developmental and epileptic encephalopathy, common facial features and cerebellar dysgenesis. https://t.co/dnim4nazl4