Chondrodysplasia Punctata Syndrome

Common Name(s)

Chondrodysplasia Punctata 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 "Chondrodysplasia Punctata 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 "Chondrodysplasia Punctata Syndrome" returned 7 free, full-text research articles on human participants. First 3 results:

Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata.
 

Author(s): Noriyuki Kanzawa, Nobuyuki Shimozawa, Ronald J A Wanders, Kazutaka Ikeda, Yoshiko Murakami, Hans R Waterham, Satoru Mukai, Morihisa Fujita, Yusuke Maeda, Ryo Taguchi, Yukio Fujiki, Taroh Kinoshita

Journal: J. Lipid Res.. 2012 Apr;53(4):653-63.

 

Many cell surface proteins in mammalian cells are anchored to the plasma membrane via glycosylphosphatidylinositol (GPI). The predominant form of mammalian GPI contains 1-alkyl-2-acyl phosphatidylinositol (PI), which is generated by lipid remodeling from diacyl PI. The conversion ...

Last Updated: 13 Mar 2012

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Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis.
 

Author(s): Annette Kolb-Mäurer, Karl-Heinz Grzeschik, Dorothea Haas, Eva-Bettina Bröcker, Henning Hamm

Journal: Acta Derm. Venereol.. 2008 ;88(1):47-51.

 

Conradi-Hünermann-Happle syndrome, or X-linked dominant chondrodysplasia punctata, is a rare genetic disorder characterized by skeletal dysplasia, stippled epiphyses, cataracts, transient ichthyosis and atrophic residua in a mosaic pattern. Mutations in the gene encoding the emopamil-binding ...

Last Updated: 7 Jan 2008

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Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies.
 

Author(s): Jia-Woei Hou

Journal: Chang Gung Med J. 2005 Sep;28(9):643-50.

 

Contiguous gene syndrome (CGS) is characterized by a series of clinical features resulting from interstitial or terminal deletions of various adjacent genes. Several important genes have been identified in the Xp22.3 region to be responsible for genetically heterogeneous diseases. ...

Last Updated: 5 Dec 2005

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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 "Chondrodysplasia Punctata 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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