Severe congenital neutropenia 4

Common Name(s)

Severe congenital neutropenia 4

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Severe congenital neutropenia 4" 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 "Severe congenital neutropenia 4" returned 2 free, full-text research articles on human participants. First 3 results:

Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype.
 

Author(s): Bridget A Fernandez, Jane S Green, Ford Bursey, Brendan Barrett, Andrée MacMillan, Sarah McColl, Sara Fernandez, Proton Rahman, Krista Mahoney, Sergio L Pereira, Stephen W Scherer, Kym M Boycott, Michael O Woods,

Journal:

 

Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive disorder caused by mutations in the third subunit of the enzyme glucose-6-phosphatase (G6PC3). Its core features are congenital neutropenia and a prominent venous skin pattern, and affected individuals have variable ...

Last Updated: 17 Dec 2012

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Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.
 

Author(s): Siddharth Banka, Elena Chervinsky, William G Newman, Yanick J Crow, Shay Yeganeh, Joanne Yacobovich, Dian Donnai, Stavit Shalev

Journal: Eur. J. Hum. Genet.. 2011 Jan;19(1):18-22.

 

Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive condition, which was defined recently with identification of the causative mutations in G6PC3. To date there are only three reports in the literature describing patients with SCN4 with mutations in the G6PC3 gene. ...

Last Updated: 14 Dec 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 "Severe congenital neutropenia 4" 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

There are currently no open clinical trials for this condition.