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Article

CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q.

American journal of human genetics - 1 Sept 2007

Shiels Alan, Bennett Thomas M, Knopf Harry L S, Yamada Koki, Yoshiura Koh-ichiro, Niikawa Norio, Shim Soomin, Hanson Phyllis I

Abstract excerpt

Cataracts are a clinically diverse and genetically heterogeneous disorder of the crystalline lens and a leading cause of visual impairment. Here we report linkage of autosomal dominant "progressive childhood posterior subcapsular" cataracts segregating in a white family to short tandem repeat (STR) markers D20S847 (LOD score [Z] 5.50 at recombination fraction [theta] 0.0) and D20S195 (Z=3.65 at theta =0.0) on...

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Identifiers

PMID: 17701905
DOI: 10.1086/519980
PMCID: PMC1950844

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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