Article

Three novel mutations of microphthalmos identified in two Chinese families

2020-02-19

Abstract excerpt

<h4>Background: </h4> To identify the underlying genetic defect responsible for microphthalmos eyes in two three-generation Chinese families. <h4>Methods: </h4>: In our study, we screened 425 potential eye disease-related genes of the proband of a three-generation Chinese family diagnosed with microphthalmos using next-generation sequencing-based target capture sequencing. Variants were filtered and analyzed to id...

Topics

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

Identifiers and source

Literature Corpus work: 645181a8-d872-545a-bfb4-4d7f1c4e6355
DOI: 10.21203/rs.2.23917/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Three novel mutations of microphthalmos identified in two Chinese familiesDOI 10.21203/rs.2.23917/v1Read

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.Semantic proximity Read

Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.Semantic proximity Read

Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.Semantic proximity Read

Four mutations identified in Chinese families with autosomal dominant congenital cataracts by next-generation sequencing.Semantic proximity Read

Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.Semantic proximity Read

Mutational spectrum in a Chinese cohort with congenital cataracts.Semantic proximity Read

Novel mutations associated with autosomal dominant congenital cataract are identified in Chinese familiesSemantic proximity Read

Identification of 4 Novel Variants in 19 Families with Congenital CataractsSemantic proximity Read

Identification of mutations associated with congenital cataracts in nineteen Chinese familiesSemantic proximity Read

Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia.Semantic proximity Read

Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic StrategiesSemantic proximity Read

Genetic investigation of 93 families with microphthalmia or posterior microphthalmosSemantic proximity Read