Branchiooculofacial Syndrome

Common Name(s)

Branchiooculofacial Syndrome

Branchiooculofacial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth. Only about 50 cases of BOFS had been reported in the medical literature. Like its name implies, BOFS is characterized by skin defects, eye abnormalities, and distinctive facial features. Among the reported cases thus far, the symptoms may vary from mild to severe. BOFS is caused by mutations in the TFAP2A gene and inherited as an autosomal dominant trait.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Branchiooculofacial Syndrome" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

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

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The terms "Branchiooculofacial Syndrome" returned 0 free, full-text review 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.