Cataract Microcornea Syndrome

Common Name(s)

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

Increasing βB1-crystallin sensitivity to proteolysis caused by the congenital cataract-microcornea syndrome mutation S129R.
 

Author(s): Sha Wang, Wei-Jie Zhao, Huihui Liu, Haipeng Gong, Yong-Bin Yan

Journal: Biochim. Biophys. Acta. 2013 Feb;1832(2):302-11.

 

Congenital hereditary cataract, which is mainly caused by the deposition of crystallins in light-scattering particles, is one of the leading causes of newborn blindness in human beings. Recently, an autosomal dominant congenital cataract-microcornea syndrome in a Chinese family has ...

Last Updated: 1 Jan 2013

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A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer.
 

Author(s): Kai Jie Wang, Sha Wang, Ni-Qian Cao, Yong-Bin Yan, Si Quan Zhu

Journal: Hum. Mutat.. 2011 Mar;32(3):E2050-60.

 

Congenital cataract-microcornea syndrome (CCMC) is a clinically and genetically heterogeneous condition characterized by lens opacities and microcornea. It appears as a distinct phenotype of heritable congenital cataract. Here we report a large Chinese family with autosomal dominant ...

Last Updated: 5 Oct 2011

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A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.
 

Author(s): Shanshan Hu, Binbin Wang, Zhou Zhou, Guangkai Zhou, Jing Wang, Xu Ma, Yanhua Qi

Journal:

 

To identify the underlying genetic defect in a four-generation family of Chinese origin with autosomal dominant congenital cataract-microcornea syndrome (CCMC).

Last Updated: 31 Aug 2010

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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 "Cataract Microcornea Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.