Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Early Diagnosis of Syndromic Congenital Cataracts in a Large Cohort of Congenital Cataracts.

American journal of ophthalmology - 1 Jul 2024

Wang Qiwei, Wang Dongni, Qin Tingfeng, Zhang Xulin, Lin Xiaoshan, Chen Jingjing, Chen Wan, Zhao Lanqin, Huang Weiming, Lin Zhuoling, Li Jing, Dongye Meimei, Wu Xiaohang, Wang Xun, Li Xiaoyan, Lin Yongbin, Tan Haowen, Liu Yizhi, Lin Haotian, Chen Weirong

Abstract excerpt

PURPOSE: To explore the factors related to the diagnosis yield of syndromic congenital cataracts and describe the phenotype-genotype correlation in congenital cataract patients. DESIGN: Prospective cohort study. METHODS: Setting: the participants from underwent clinical examinations between 2021 and 2022. Facial and anterior eye segment photographs, pre- and postoperative ocular parameters, and medical and family...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cataract
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Early Diagnosis

Share to Exome Sequencing

Share to Genetic Association Studies

Share to Genetic Testing

Share to Infant

Share to Syndrome

Source

Identifiers

PMID: 38184101
DOI: 10.1016/j.ajo.2023.10.022

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Early Diagnosis of Syndromic Congenital Cataracts in a Large Cohort of Congenital Cataracts.PMID 38184101Read ↗

Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalitiesSemantic proximity Read ↗

Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital CataractsSemantic proximity Read ↗

Phenotype-genotype correlation of patients with congenital cataracts and hair anomalies.Semantic proximity Read ↗

Genomic Approaches to Diagnosis in Congenital and Developmental Cataract: Comparison of Panel Versus Whole Genome Sequencing, Diagnostic Yield, Variant Spectrum, Genotype-Phenotype Correlations, and Implications for Counseling.Semantic proximity Read ↗

Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.Semantic proximity Read ↗

Diagnostic yield of next generation sequencing gene panel assays for early-onset glaucoma in an ethnically diverse population.Semantic proximity Read ↗

Congenital Cataract and Its Genetics: The Era of Next-Generation SequencingSemantic proximity Read ↗

Personalized diagnosis and management of congenital cataract by next-generation sequencing.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 ↗

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

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.Semantic proximity Read ↗

Genetic Analysis in a Swiss Cohort of Bilateral Congenital CataractSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.