Collection of biomaterial for iPSCs to study the molecular mechanisms underlying Witteveen-Kolk syndrome
Recruiting
- Conditions
- Witteveen-Kolk syndromeSIN3A syndrome10083624
- Registration Number
- NL-OMON53284
- Lead Sponsor
- Radboud Universitair Medisch Centrum
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 3
Inclusion Criteria
- Written informed consent to participate in this study
- Having a (likely) pathogenic variant in SIN3A
- Clinical diagnosis of WitKoS as judged by the principal investigator
- Age >= 18 years
Exclusion Criteria
- Subjects who do not meet the inclusion criteria
- Subjects with another genetic variant (e.g. copy number variation, single
nucleotide variant) that most likely contributes to the neurodevelopmental
phenotype.
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method