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Article

CRYBB1 mutation associated with congenital cataract and microcornea.

Molecular vision - 8 Aug 2005

Willoughby Colin E, Shafiq Ayad, Ferrini Walter, Chan Louie Loh Yen, Billingsley Gail, Priston Megan, Mok Calvin, Chandna Arvind, Kaye Stephen, Héon Elise

Abstract excerpt

PURPOSE: The molecular characterization of a UK family with an autosomal dominant congenital cataract associated with microcornea is reported. METHODS: Family history and clinical data were recorded. This phenotype was linked to a 7.6 cM region of chromosome 22q11.2-q12.2, spanning the beta-crystallin gene cluster (ZMax of 3.91 for marker D22S1114 at theta=0). Candidate genes were PCR amplified and screened for...

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Share to Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Eye Abnormalities

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Share to Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 16110300

Genes

CRYBB1
CRYBB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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