Barber Say Syndrome

Common Name(s)

Barber Say Syndrome, Hypertrichosis atrophic skin ectropion macrostomia

Description for this condition is not yet available.
 

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Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Barber Say Syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
 

Author(s): Jill Clayton-Smith, James O'Sullivan, Sarah Daly, Sanjeev Bhaskar, Ruth Day, Beverley Anderson, Anne K Voss, Tim Thomas, Leslie G Biesecker, Philip Smith, Alan Fryer, Kate E Chandler, Bronwyn Kerr, May Tassabehji, Sally-Ann Lynch, Malgorzata Krajewska-Walasek, Shane McKee, Janine Smith, Elizabeth Sweeney, Sahar Mansour, Shehla Mohammed, Dian Donnai, Graeme Black

Journal: Am. J. Hum. Genet.. 2011 Nov;89(5):675-81.

 

Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) is a multiple anomaly syndrome characterized by severe intellectual disability, blepharophimosis, and a mask-like facial appearance. A number of individuals with SBBYSS also have thyroid abnormalities and cleft ...

Last Updated: 14 Nov 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Barber Say Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.