Martsolf syndrome

Common Name(s)

Martsolf syndrome, Cataract Mental Retardation Hypogonadism

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Martsolf 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 "Martsolf syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.
 

Author(s): Irene A Aligianis, Neil V Morgan, Marina Mione, Colin A Johnson, Elisabeth Rosser, Raoul C Hennekam, Gill Adams, Richard C Trembath, Daniela T Pilz, Neil Stoodley, Anthony T Moore, Steve Wilson, Eamonn R Maher

Journal: Am. J. Hum. Genet.. 2006 Apr;78(4):702-7.

 

We identified a homozygous missense mutation in the noncatalytic subunit (RAB3GAP2) of RAB3GAP that results in abnormal splicing in a family with congenital cataracts, hypogonadism, and mild mental retardation (Martsolf syndrome). Recently, mutations in the catalytic subunit of RAB3GAP ...

Last Updated: 13 Mar 2006

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Reviews from the PubMed Database

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The terms "Martsolf 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

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