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PATient based phenotyping and evaluation of therapy for RASopathies within the framework of the collaborative project EURAS – EURopean network for neurodevelopmental RASopathies

Conditions
Q87.8
Other specified congenital malformation syndromes, not elsewhere classified
Registration Number
DRKS00032923
Lead Sponsor
Institut für Humangenetik der medizinischen Fakultät der Otto-von-Guericke-Universität Magdeburg
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
Enrolling by invitation
Sex
All
Target Recruitment
3000
Inclusion Criteria

clinically or genetically confirmed RASopathy

Exclusion Criteria

not applicable

Study & Design

Study Type
observational
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
observational cohort study/patient registry<br>The aim of this study is to better describe the neurodevelopmental phenotype in RASopathies and possibly detect novel therapeutical targets.
Secondary Outcome Measures
NameTimeMethod
observational cohort study/patient registry
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