Ulnar-mammary syndrome

Common Name(s)

Ulnar-mammary syndrome

The ulnar-mammary syndrome is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies ({3:Bamshad et al., 1996}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ulnar-mammary 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 "Ulnar-mammary syndrome" returned 10 free, full-text research articles on human participants. First 3 results:

TBX3 regulates splicing in vivo: a novel molecular mechanism for Ulnar-mammary syndrome.
 

Author(s): Pavan Kumar P, Sarah Franklin, Uchenna Emechebe, Hao Hu, Barry Moore, Chris Lehman, Mark Yandell, Anne M Moon

Journal:

 

TBX3 is a member of the T-box family of transcription factors with critical roles in development, oncogenesis, cell fate, and tissue homeostasis. TBX3 mutations in humans cause complex congenital malformations and Ulnar-mammary syndrome. Previous investigations into TBX3 function ...

Last Updated: 28 Mar 2014

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Mouse TBX3 mutants suggest novel molecular mechanisms for Ulnar-mammary syndrome.
 

Author(s): Deborah U Frank, Uchenna Emechebe, Kirk R Thomas, Anne M Moon

Journal:

 

The transcription factor TBX3 plays critical roles in development and TBX3 mutations in humans cause Ulnar-mammary syndrome. Efforts to understand how altered TBX3 dosage and function disrupt the development of numerous structures have been hampered by embryonic lethality of mice ...

Last Updated: 11 Jul 2013

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The ulnar-mammary syndrome gene, Tbx3, is a direct target of the retinoic acid signaling pathway, which regulates its expression during mouse limb development.
 

Author(s): Reyna Deeya Ballim, Cathy Mendelsohn, Virginia E Papaioannou, Sharon Prince

Journal: Mol. Biol. Cell. 2012 Jun;23(12):2362-72.

 

TBX3, a member of the T-box transcription factor gene family, is a transcriptional repressor that is required for the development of the heart, limbs, and mammary glands. Mutations in TBX3 that result in reduced functional protein lead to ulnar-mammary syndrome, a developmental disorder ...

Last Updated: 14 Jun 2012

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Reviews from the PubMed Database

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The terms "Ulnar-mammary 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.