Say syndrome

Common Name(s)

Say syndrome

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "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 "Say syndrome" returned 3 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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New developments in the diagnosis of fibromyalgia syndrome: say goodbye to tender points?
 

Author(s): William S Wilke

Journal: Cleve Clin J Med. 2009 Jun;76(6):345-52.

 

The Symptom Intensity Scale score can be used to identify and quantify fibromyalgia syndrome from information supplied by a simple questionnaire. In this paper, the author describes how this test was developed and argues in favor of its use in clinical practice in diagnosing fibromyalgia syndrome.

Last Updated: 2 Jun 2009

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Deletion 22q11 syndrome: acknowledging a lost eponym as we say farewell to an acronym.
 

Author(s): P D Turnpenny, R W Pigott

Journal: J. Med. Genet.. 2001 Apr;38(4):271-3.

 

Last Updated: 22 May 2001

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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 "Say syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al.
 

Author(s): C Perandones, R I Cerretini, R M Vargas Vera, E I Aranda, L G Alba, O H Pivetta

Journal: J. Med. Genet.. 1996 Mar;33(3):227-9.

 

We report on a 13 year old boy with microcephaly, sloping forehead, prominent nose, scoliosis, and flexion contractures involving the elbows and knees. The patient showed severe mental and growth retardation. Since birth and up to the present he has suffered from multiple and varied ...

Last Updated: 10 Oct 1996

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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