Article

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

2024-11-25

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Although several inherited ocular disorders have been extensively studied in horses, few reports of equine ectopia lentis exist and no genetic investigations have been performed. Ectopia lentis in humans and other species is reported to be caused by trauma, genetic variants, and systemic diseases. The most commonly reported genetic causes are dominant variants i...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e1140f4c-f410-5cf2-b026-409f6021b7b1
DOI: 10.21203/rs.3.rs-5060611/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Evidence of a de novo variant in FBN1:p.(Ala882Val) as the cause of congenital bilateral ectopia lentis in a crossbred horseDOI 10.21203/rs.3.rs-5060611/v1Read

Evidence of de novo variant in FBN1as the potential cause of congenital bilateral ectopia lentis in a crossbred horseSemantic proximity Read

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

Ectopia lentis associated with a 20-base deletion in the ADAMTSL4 gene in the Old Order Amish population.Semantic proximity Read

Clinical and Surgical Implications of Genotype-Phenotype Correlations in Congenital Ectopia Lentis: A Real-World Cohort Study.Semantic proximity Read

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

A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.Semantic proximity Read

The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature.Semantic proximity Read

Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.Semantic proximity Read

Hanoverian F/W-line contributes to segregation of Warmblood fragile foal syndrome type 1 variant PLOD1:c.2032G>A in Warmblood horses.Semantic proximity Read

Clinical and Genetic Landscape of Ectopia Lentis Based on a Cohort of Patients From 156 FamiliesSemantic proximity Read

Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal SyndromeSemantic proximity Read

[Hereditary ectopia lentis].Semantic proximity Read