Robinow syndrome autosomal dominant

Common Name(s)

Robinow syndrome autosomal dominant

Description for this condition is not yet available.
 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 4 free, full-text research articles on human participants. First 3 results:

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
 

Author(s): Janson J White, Juliana F Mazzeu, Alexander Hoischen, Yavuz Bayram, Marjorie Withers, Alper Gezdirici, Virginia Kimonis, Marloes Steehouwer, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, , Bregje W M van Bon, V Reid Sutton, James R Lupski, Han G Brunner, Claudia M B Carvalho

Journal: Am. J. Hum. Genet.. 2016 Mar;98(3):553-61.

 

Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features. Recent reports have identified, in individuals with dominant Robinow syndrome, a specific type of variant characterized by being uniformly ...

Last Updated: 5 Mar 2016

Go To URL
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
 

Author(s): Janson White, Juliana F Mazzeu, Alexander Hoischen, Shalini N Jhangiani, Tomasz Gambin, Michele Calijorne Alcino, Samantha Penney, Jorge M Saraiva, Hanne Hove, Flemming Skovby, Hülya Kayserili, Elicia Estrella, Anneke T Vulto-van Silfhout, Marloes Steehouwer, Donna M Muzny, V Reid Sutton, Richard A Gibbs, , James R Lupski, Han G Brunner, Bregje W M van Bon, Claudia M B Carvalho

Journal: Am. J. Hum. Genet.. 2015 Apr;96(4):612-22.

 

Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features and for which both autosomal-recessive and autosomal-dominant inheritance patterns have been described. Causative variants in the ...

Last Updated: 4 Apr 2015

Go To URL
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

Go To URL

Reviews from the PubMed Database

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

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.