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Cataract 2, Coppock-like

MedGen UID:
864432
•Concept ID:
C4015995
•
Finding
Synonym: CATARACT 2, COPPOCK-LIKE
 
OMIM®: 123680

Recent clinical studies

Prognosis

Activation of the gamma E-crystallin pseudogene in the human hereditary Coppock-like cataract.
Brakenhoff RH, Henskens HA, van Rossum MW, Lubsen NH, Schoenmakers JG
Hum Mol Genet 1994 Feb;3(2):279-83. doi: 10.1093/hmg/3.2.279. PMID: 8004095

Clinical prediction guides

Structural analysis of the mutant protein D26G of human γS-crystallin, associated with Coppock cataract.
Karri S, Kasetti RB, Vendra VP, Chandani S, Balasubramanian D
Mol Vis 2013;19:1231-7. Epub 2013 Jun 5 PMID: 23761725Free PMC Article
A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family.
Zhang L, Qu X, Su S, Guan L, Liu P
Mol Vis 2012;18:2114-8. Epub 2012 Jul 26 PMID: 22876138Free PMC Article
Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2.
Gill D, Klose R, Munier FL, McFadden M, Priston M, Billingsley G, Ducrey N, Schorderet DF, Héon E
Invest Ophthalmol Vis Sci 2000 Jan;41(1):159-65. PMID: 10634616
The gamma-crystallins and human cataracts: a puzzle made clearer.
Héon E, Priston M, Schorderet DF, Billingsley GD, Girard PO, Lubsen N, Munier FL
Am J Hum Genet 1999 Nov;65(5):1261-7. doi: 10.1086/302619. PMID: 10521291Free PMC Article
Activation of the gamma E-crystallin pseudogene in the human hereditary Coppock-like cataract.
Brakenhoff RH, Henskens HA, van Rossum MW, Lubsen NH, Schoenmakers JG
Hum Mol Genet 1994 Feb;3(2):279-83. doi: 10.1093/hmg/3.2.279. PMID: 8004095

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