To elucidate the molecular basis of skin disease.
ID
Source
Brief title
Condition
- Skin and subcutaneous tissue disorders congenital
- Skin neoplasms malignant and unspecified
- Skin and subcutaneous tissue disorders NEC
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Not applicable. This is not a clinical trial.
Secondary outcome
Not applicable
Background summary
The department of dermatology of the university hospital Maastricht specializes
in the diagnosis and treatment of inherited malignant and non-malignant skin
disorders, including complex malformation syndromes. We have a state of the art
molecular biology laboratory that has facilities for sequencing and imaging.
There are three lines of research that are guided by our clinical work:
1. Functional characterisation of mutations in gap junction proteins;
2. Functional analysis of mutations in lamins A/C and their associated proteins
in lipodystrophies and progeroid syndromes
3. Molecular genetic diagnosis and functional analysis of inherited and
congenital syndromic and non-syndromic skin disorders
Study objective
To elucidate the molecular basis of skin disease.
Study design
Not applicable, this is not a clinical trial
Study burden and risks
Patient are not subjected to any other procedures outside of the normal
diagnostic ones. As such there is no added burden or risk for them.
Postbus 5800
6202AZ Maastricht
NL
Postbus 5800
6202AZ Maastricht
NL
Listed location countries
Age
Inclusion criteria
Inherited and/or congenital skin disorder
Exclusion criteria
Refusal to participate in the project
Refusal of parents/legal guardian to grant permission
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL11251.068.06 |