Skin fragility woolly hair syndrome

Common Name(s)

Skin fragility woolly hair 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 "Skin fragility woolly hair 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 "Skin fragility woolly hair syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.
 

Author(s): Neil V Whittock, Hong Wan, Susan M Morley, Maria C Garzon, Leonard Kristal, Patrice Hyde, W H Irwin McLean, Leena Pulkkinen, Juoni Uitto, Angela M Christiano, Robin A J Eady, John A McGrath

Journal: J. Invest. Dermatol.. 2002 Feb;118(2):232-8.

 

The constitutive desmosomal plaque protein desmoplakin plays a vital part in keratinocyte adhesion in linking the transmembranous desmosomal cadherins to the cytoplasmic keratin filament network. Recently, mutations in desmoplakin have been shown to underlie some cases of the autosomal ...

Last Updated: 13 Feb 2002

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Reviews from the PubMed Database

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The terms "Skin fragility woolly hair 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.