Study on SHANK3 mutations in Phelan-McDermid syndrome
Part of Genetic & congenital clinical trials.
This study looks at people with Phelan-McDermid syndrome caused by changes in the SHANK3 gene. It aims to find other genes that might affect the condition. Researchers will also include family members like parents, siblings, and grandparents.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have been diagnosed with Phelan-McDermid syndrome as part of an evaluation for a developmental disorder.
- You have a deletion or harmful change in the SHANK3 gene.
- You are on a national health insurance plan or are a beneficiary.
- You or your legal guardians sign a consent form to join the study.
- Family members (parents, siblings, grandparents) can also join.
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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