Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome.
Alina T MidroNiels TommerupJan BorysBarbara PanasiukBożena Kosztyła-HojnaRenata ZalewskaJerzy KonstantynowiczUrszula ŁebkowskaLance CooperSteven E SchererManna M MehrjouyQian LiuRafał SkowrońskiPaweł StankiewiczPublished in: Clinical genetics (2019)