Article

Analysis of BMP3 variants in the causality of ocular coloboma

2021-08-11

Abstract excerpt

Coloboma, a congenital disorder characterized by gaps in ocular tissues, is caused when the choroid fissure fails to close during embryonic development. Several loci have been associated with coloboma, but these represent less than 40% of those that are involved with this disease. Here, we describe a novel coloboma-causing locus, BMP3. Whole exome sequencing and Sanger sequencing of patients with coloboma identifi...

Topics

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

Identifiers and source

Literature Corpus work: fa9174dd-f786-5be5-bbaf-488d0e875fcf
DOI: 10.22541/au.162869374.41266557/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Analysis of BMP3 variants in the causality of ocular colobomaDOI 10.22541/au.162869374.41266557/v1Read

Analysis of BMP3 Variants In The Causality of Ocular ColobomaSemantic proximity Read

Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis.Semantic proximity Read

Ocular coloboma: Genetic variants reveal a dynamic model of eye developmentSemantic proximity Read

Identification of novel coloboma candidate genes through conserved gene expression analyses across four vertebrate speciesSemantic proximity Read

Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eyeSemantic proximity Read

Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.Semantic proximity Read

Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.Semantic proximity Read

Ocular coloboma: a reassessment in the age of molecular neuroscienceSemantic proximity Read

The genetic architecture of microphthalmia, anophthalmia and coloboma.Semantic proximity Read

Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.Semantic proximity Read

Ocular colobomata.Semantic proximity Read

The homeobox gene Six3 is a potential regulator of anterior segment formation in the chick eye.Semantic proximity Read