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autosomal dominant cataract

Monday 15 October 2007

Etiology (Examples)

- CHMP4B germline mutations

References

- Shiels A, Bennett TM, Knopf HL, Yamada K, Yoshiura K, Niikawa N, Shim S, Hanson PI. CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. Am J Hum Genet. 2007 Sep;81(3):596-606. PMID: 17701905