Cerebrooculofacioskeletal syndrome 4

Common Name(s)

Cerebrooculofacioskeletal syndrome 4

Cerebrooculofacioskeletal syndrome-4 is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, arthrogryposis, and neurologic abnormalities. Cellular studies show a defect in both transcription-coupled and global genome nucleotide excision repair (TC-NER and GG-NER) (summary by {1:Jaspers et al., 2007} and {2:Kashiyama et al., 2013}). For a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see {214150}.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cerebrooculofacioskeletal syndrome 4" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cerebrooculofacioskeletal syndrome 4" returned 0 free, full-text research articles on human participants.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.