Article

Analysis of BMP3 Variants In The Causality of Ocular Coloboma

2021-09-22

Abstract excerpt

<title>Abstract</title> <p>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, <italic>BMP3</italic>. Whole exome sequencing and Sanger...

Topics

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

Identifiers and source

Literature Corpus work: 33ff609c-2cee-5db9-871a-b72fc8e95c77
DOI: 10.21203/rs.3.rs-876946/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 10.21203/rs.3.rs-876946/v1Read

Analysis of BMP3 variants in the causality of ocular colobomaSemantic proximity Read

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

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

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

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

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

Ocular colobomata.Semantic proximity Read

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

The regulatory landscape of optic fissure closure in the vertebrate eyeSemantic proximity Read

Zfp503/Nlz2 is Required for RPE Differentiation and Optic Fissure ClosureSemantic proximity Read