Terminal osseous dysplasia

Common Name(s)

Terminal osseous dysplasia

Terminal osseous dysplasia is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy ({9:Sun et al., 2010}).
 

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Condition Specific Organizations

Following organizations serve the condition "Terminal osseous dysplasia" for support, advocacy or research.

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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 "Terminal osseous dysplasia" returned 3 free, full-text research articles on human participants. First 3 results:

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.
 

Author(s): Yu Sun, Rowida Almomani, Emmelien Aten, Jacopo Celli, Jaap van der Heijden, Hanka Venselaar, Stephen P Robertson, Anna Baroncini, Brunella Franco, Lina Basel-Vanagaite, Emiko Horii, Ricardo Drut, Yavuz Ariyurek, Johan T den Dunnen, Martijn H Breuning

Journal: Am. J. Hum. Genet.. 2010 Jul;87(1):146-53.

 

Terminal osseous dysplasia (TOD) is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma with onset in female infancy. After performing X-exome capture and sequencing, we identified ...

Last Updated: 6 Jul 2010

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Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.
 

Author(s): Nicola Brunetti-Pierri, Ralph Lachman, Kwanghyuk Lee, Suzanne M Leal, Pasquale Piccolo, Ignatia B Van Den Veyver, Carlos A Bacino

Journal: Am. J. Med. Genet. A. 2010 Jul;152A(7):1825-31.

 

Terminal osseous dysplasia with pigmentary defects (TODPD) is an X-linked dominant syndrome with distal limb anomalies and pigmentary skin defects. We have previously described this syndrome in several females from a large, four-generation pedigree. The presentation in the affected ...

Last Updated: 1 Jul 2010

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Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter.
 

Author(s): W Zhang, R Amir, D W Stockton, I B Van Den Veyver, C A Bacino, H Y Zoghbi

Journal: Am. J. Hum. Genet.. 2000 Apr;66(4):1461-4.

 

We have identified a four-generation family with 10 affected females manifesting one or more of the following features: osseous dysplasia involving the metacarpals, metatarsals, and phalanges leading to brachydactyly, camptodactyly, and other digital deformities; pigmentary defects ...

Last Updated: 31 May 2000

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Reviews from the PubMed Database

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The terms "Terminal osseous dysplasia" returned 0 free, full-text review articles on human participants.

 
 
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