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Article

Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.

American journal of medical genetics. Part A - 1 Jul 2016

Trkova Marie, Hynek Martin, Dudakova Lubica, Becvarova Vera, Hlozanek Martin, Raskova Dagmar, Vincent Andrea L, Liskova Petra

Abstract excerpt

We observed bilateral cataracts on second trimester ultrasound, in two consecutive pregnancies, with no other structural defects detected. The parents were unrelated and had no family history for the disease. The first pregnancy was terminated in week 22. Copy number variation analysis revealed, in both the aborted fetus and the mother, a 495 kb duplication at 22q11.23 encompassing CRYBB3 and CRYBB2, and not...

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Source

Identifiers

PMID: 27256633
DOI: 10.1002/ajmg.a.37685

Genes

CRYBB2
CRYBB3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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