Testing treatment understanding for Kosaki and Penttinen syndromes
Part of Genetic & congenital clinical trials.
This study looks at people with Kosaki or Penttinen syndrome who have a specific genetic change in the PDGFRB gene. It aims to improve how these conditions are understood and treated, using information from participants who consent to the study.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have been clinically diagnosed with Kosaki or Penttinen syndrome
- Your genetic test shows an activating change (variant) in the PDGFRB gene
- You have been told about the study and can sign a written consent form
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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