Robinow syndrome autosomal dominant

Common Name(s)

Robinow syndrome autosomal dominant

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Robinow syndrome autosomal dominant" 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 "Robinow syndrome autosomal dominant" returned 2 free, full-text research articles on human participants. First 3 results:

RYK is not mutated in autosomal dominant Robinow syndrome.
 

Author(s): Juliana F Mazzeu

Journal: J. Biol. Chem.. 2013 Jan;288(4):2905.

 

Last Updated: 28 Jan 2013

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WNT5A mutations in patients with autosomal dominant Robinow syndrome.
 

Author(s): Anthony D Person, Soraya Beiraghi, Christine M Sieben, Spencer Hermanson, Ann N Neumann, Mara E Robu, J Robert Schleiffarth, Charles J Billington, Hans van Bokhoven, Jeannette M Hoogeboom, Juliana F Mazzeu, Anna Petryk, Lisa A Schimmenti, Han G Brunner, Stephen C Ekker, Jamie L Lohr

Journal: Dev. Dyn.. 2010 Jan;239(1):327-37.

 

Robinow syndrome is a skeletal dysplasia with both autosomal dominant and autosomal recessive inheritance patterns. It is characterized by short stature, limb shortening, genital hypoplasia, and craniofacial abnormalities. The etiology of dominant Robinow syndrome is unknown; however, ...

Last Updated: 24 Dec 2009

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Reviews from the PubMed Database

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The terms "Robinow syndrome autosomal dominant" 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

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