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

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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Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
 

Author(s): Eva Klopocki, Luitgard M Neumann, Holger Tönnies, Hans-Hilger Ropers, Stefan Mundlos, Reinhard Ullmann

Journal: Eur. J. Hum. Genet.. 2006 Dec;14(12):1274-9.

 

Ulnar-mammary syndrome (UMS) is a rare autosomal-dominant disorder caused by mutations in TBX3. The condition is characterized by hypoplasia or aplasia of upper limbs on the ulnar side, mammary glands and nipples, and of apocrine glands in both sexes (MIM #181450). We report on a ...

Last Updated: 23 Nov 2006

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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 "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

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