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

Mutation screening in autosomal dominant congenital cataract families from North India.

Molecular genetics and genomics : MGG - 1 Nov 2023

Goyal Shiwali, Singh Ravijit, Singh Jai Rup, Vanita Vanita

Abstract excerpt

Congenital cataract an opacity of the eye lens is present at birth and results in visual impairment during early childhood. If left untreated, it can lead to permanent blindness. Its prevalence is ten times higher in developing countries like India. Thus, we aimed to investigate the underlying genetic defects in three autosomal dominant congenital cataract (ADCC) families from North India. Detailed 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
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Dominant

Share to Infant, Newborn

Share to Mutation, Missense

Share to Pedigree

Source

Identifiers

PMID: 37458831
DOI: 10.1007/s00438-023-02053-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation screening in autosomal dominant congenital cataract families from North India.PMID 37458831Read ↗

Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India.Semantic proximity Read ↗

Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.Semantic proximity Read ↗

Mutation screening of γ-crystallin gene in congenital cataract patients from North India.Semantic proximity Read ↗

Molecular and structural analysis of genetic variations in congenital cataract.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 ↗

Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.Semantic proximity Read ↗

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

Crystallin gene mutations in Indian families with inherited pediatric cataract.Semantic proximity Read ↗

Identification of a De Novo 3bp Deletion in CRYBA1/A3 Gene in Autosomal Dominant Congenital Cataract.Semantic proximity Read ↗

Mutation analysis of two families with inherited congenital cataracts.Semantic proximity Read ↗

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

Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.Semantic proximity Read ↗

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