Clinical trials: De Novo Mutation
Developmental Disorders
Risk of Recurrence of de Novo Mutations: Research and Quantification of Paternal Germinal Mosaicism by the Combined Use of Genomic Tools
1. Inclusion of 5 families Inclusions will be made by the clinical genetics department of the Rouen University Hospital (monocentric study) and will correspond to trios of parents + child with unexplained developmental…
- Trial name
- RRMUT (NCT04564235)
- Testing
- genome-wide analyses, Search for de novo mutations in paternal sperm samples
- Where
- France
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- University Hospital, Rouen