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Article

Identification of a fibrillin-1 gene mutation in a monozygotic twin presenting with bilateral juvenile-onset ectopia lentis.

Korean journal of ophthalmology : KJO - 1 Feb 2015

Yum Hae Ri, Kim Sung Eun, Shin Sun Young, Park Shin Hae

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25646068
DOI: 10.3341/kjo.2015.29.1.77
PMCID: PMC4309877

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Identification of a fibrillin-1 gene mutation in a monozygotic twin presenting with bilateral juvenile-onset ectopia lentis.PMID 25646068Read ↗

Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis.Semantic proximity Read ↗

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Evidence of a de novo variant in FBN1:p.(Ala882Val) as the cause of congenital bilateral ectopia lentis in a crossbred horseSemantic proximity Read ↗

Geleophysic Dysplasia with Novel ADAMTSL2 Compound Heterozygous Mutations: A Case Report of Progressive Skeletal Dysplasia with Multisystem InvolvementSemantic proximity Read ↗

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The Phenotypic and Genotypic Features of ADAMTSL4-Related Ocular Disease.Semantic proximity Read ↗

Microcornea and subluxated lenses due to a splicing error in the fibrillin-1 gene in a patient with Marfan syndrome.Semantic proximity Read ↗

Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients.Semantic proximity Read ↗

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