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

Midro, A. T., Tommerup, N., Borys, J., Panasiuk, B., Kosztyła-Hojna, B., Zalewska, R., … Stankiewicz, P. (2019, April 1). 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. Clinical Genetics. Blackwell Publishing Ltd. https://doi.org/10.1111/cge.13490