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cataract Coppock-like

Pathology: - congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens - generally bilateral Genetics: - autosomal dominant - associated with defects in CRYBB2 - associated with defects in CRYGC

General

autosomal dominant cataracts

Database Correlations

OMIM 604307

References

  1. OMIM :accession 604307
  2. UniProt :accession P43320
  3. UniProt :accession P07315