A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome

C. Bredrup,T. Stokowy,J. McGaughran,Samuel Lee,Dipak Sapkota,Ileana Cristea,Linda Xu,K. Tveit,G. Høvding,V. Steen,E. Rødahl,O. Bruland,G. Houge

Published 2018 in European Journal of Human Genetics

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