Oculo tricho anal syndrome

Common Name(s)

Oculo tricho anal 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 "Oculo tricho anal 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 "Oculo tricho anal syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.
 

Author(s): Jared Nathanson, Daniel T Swarr, Amihood Singer, Mochi Liu, Amy Chinn, Wendy Jones, Jane Hurst, Nahla Khalek, Elaine Zackai, Anne Slavotinek

Journal: Am. J. Med. Genet. A. 2013 Mar;161A(3):473-8.

 

Loss of function mutations in FREM1 have been demonstrated in Manitoba-oculo-tricho-anal (MOTA) syndrome and Bifid Nose Renal Agenesis and Anorectal malformations (BNAR) syndrome, but the wider phenotypic spectrum that is associated with FREM1 mutations remains to be defined. We screened ...

Last Updated: 25 Feb 2013

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Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
 

Author(s): Anne M Slavotinek, Sergio E Baranzini, Denny Schanze, Cassandre Labelle-Dumais, Kieran M Short, Ryan Chao, Mani Yahyavi, Emilia K Bijlsma, Catherine Chu, Stacey Musone, Ashleigh Wheatley, Pui-Yan Kwok, Sandra Marles, Jean-Pierre Fryns, A Murat Maga, Mohamed G Hassan, Douglas B Gould, Lohith Madireddy, Chumei Li, Timothy C Cox, Ian Smyth, Albert E Chudley, Martin Zenker

Journal: J. Med. Genet.. 2011 Jun;48(6):375-82.

 

Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare condition defined by eyelid colobomas, cryptophthalmos and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis. Autosomal recessive ...

Last Updated: 26 May 2011

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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 "Oculo tricho anal 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.