Primary autosomal recessive microcephaly 6

Common Name(s)

Primary autosomal recessive microcephaly 6

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Primary autosomal recessive microcephaly 6" 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 "Primary autosomal recessive microcephaly 6" returned 1 free, full-text research articles on human participants. First 3 results:

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
 

Author(s): Muzammil A Khan, Verena M Rupp, Meritxell Orpinell, Muhammad S Hussain, Janine Altmüller, Michel O Steinmetz, Christian Enzinger, Holger Thiele, Wolfgang Höhne, Gudrun Nürnberg, Shahid M Baig, Muhammad Ansar, Peter Nürnberg, John B Vincent, Michael R Speicher, Pierre Gönczy, Christian Windpassinger

Journal: Hum. Mol. Genet.. 2014 Nov;23(22):5940-9.

 

Asymmetric cell division is essential for normal human brain development. Mutations in several genes encoding centrosomal proteins that participate in accurate cell division have been reported to cause autosomal recessive primary microcephaly (MCPH). By homozygosity mapping including ...

Last Updated: 22 Oct 2014

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Reviews from the PubMed Database

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The terms "Primary autosomal recessive microcephaly 6" 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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