Limb-mammary syndrome

Common Name(s)

Limb-mammary syndrome

Description for this condition is not yet available.
 

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Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Limb-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 "Limb-mammary syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
 

Author(s): H van Bokhoven, B C Hamel, M Bamshad, E Sangiorgi, F Gurrieri, P H Duijf, K R Vanmolkot, E van Beusekom, S E van Beersum, J Celli, G F Merkx, R Tenconi, J P Fryns, A Verloes, R A Newbury-Ecob, A Raas-Rotschild, F Majewski, F A Beemer, A Janecke, D Chitayat, G Crisponi, H Kayserili, J R Yates, G Neri, H G Brunner

Journal: Am. J. Hum. Genet.. 2001 Sep;69(3):481-92.

 

p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand-split foot malformation (SHFM). We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC ...

Last Updated: 2 Aug 2001

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Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.
 

Author(s): H van Bokhoven, M Jung, A P Smits, S van Beersum, F Rüschendorf, M van Steensel, M Veenstra, J H Tuerlings, E C Mariman, H G Brunner, T F Wienker, A Reis, H H Ropers, B C Hamel

Journal: Am. J. Hum. Genet.. 1999 Feb;64(2):538-46.

 

We report on a large Dutch family with a syndrome characterized by severe hand and/or foot anomalies, and hypoplasia/aplasia of the mammary gland and nipple. Less frequent findings include lacrimal-duct atresia, nail dysplasia, hypohydrosis, hypodontia, and cleft palate with or without ...

Last Updated: 13 Apr 1999

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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 "Limb-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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