WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome

#raredisease http://t.co/a957KCwlBS WAC gene loss causes dev delay, example of using deletion mapping and exomes to find genetic cause

Our article on WAC mutations causing developmental delay, hypotonia and a recognizable dysmorphism. http://t.co/vHC0dDCxaa

WAC mutations cause recognisable syndrome and recapitulate 10p11.23 microdeletion syndrome http://t.co/Ry0O0KjG2C #rarevariants