Publications
2018
- Bredrup, Cecilie; Stokowy, Tomasz; McGaughran, Julie et al. (2018). A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.. (external link)
- Xu, Linda Zi Yan; Jensen, Hanne; Johnston, Jennifer et al. (2018). Recurrent, activating variants in the receptor tyrosine kinase DDR2 cause Warburg-Cinotti syndrome. (external link)