cataract 41

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cataract 412016-11-25T07:08:21+00:00

cataract 41

OPHTHALMOLOGY

Definition An ocular disorder (OMIM:116400) characterised by opacification of the crystalline lens of the eye, typically leading to vision impairment or blindness.

Molecular pathology Defects of WFS1, which encodes a transmembrane protein that regulates Ca2+ homeostasis, cause cataract 41. 

Synonym Cataract—congenital—congenital nuclear type  

References http://www.uniprot.org/uniprot/O76024

http://www.omim.org/entry/116400

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