PDGFRB mutation causes autosomal-dominant Penttinen syndrome.
A point mutation in PDGFRB causes autosomal-dominant Penttinen syndrome Johnston JJ et al. (2015) American Journal of Human Genetics 97(3): 465-474.
Department of Medical Genetics, Center for Molecular Medicine and Therapeutics, Canadian Pharmacogenomic Network for Drug Safety, Vancouver, Canada.
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Aminkeng
D030981:Acro-Osteolysis / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics* / Q000473:pathology*; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D011371:Progeria / Q000235:genetics* / Q000473:pathology*; D020797:Receptor, Platelet-Derived Growth Factor beta / Q000235:genetics*; D015398:Signal Transduction / Q000235:genetics*
D020797:Receptor, Platelet-Derived Growth Factor beta