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

Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family.

Clinical genetics - 1 Sept 2015

Chograni M, Alkuraya F S, Ourteni I, Maazoul F, Lariani I, Chaabouni H B

Abstract excerpt

The aim of this study is to investigate the genetic basis of autosomal recessive congenital cataract and intellectual disability phenotype in a consanguineous Tunisian family. The whole genome scan of the studied family was performed with single nucleotide polymorphisms (SNPs). The resulted runs of homozygosity (ROH) were analyzed through the integrated Systems Tool for Eye gene discovery (iSyTE) in order to...

Read the complete abstract on PubMed

Topics

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

Share to Cataract
Share to Consanguinity
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Intellectual Disability

Share to Magnetic Resonance Imaging

Share to Qa-SNARE Proteins

Share to Tunisia

Source

Identifiers

PMID: 25358429
DOI: 10.1111/cge.12489

Genes

STX3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family.PMID 25358429Read ↗

First Chinese Cohort with Heterozygous COL9A3 Vitreoretinopathy: Beyond the SkeletonSemantic proximity Read ↗

Variants in PAX6, PITX3 and HSF4 Causing Autosomal Dominant Congenital CataractSemantic 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 ↗

RGS6: a novel gene associated with congenital cataract, mental retardation, and microcephaly in a Tunisian family.Semantic proximity Read ↗

Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family.Semantic proximity Read ↗

Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.Semantic proximity Read ↗

Genetic study of Alport syndrome in Tunisia.Semantic proximity Read ↗

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

Identification of PITX3 mutations in individuals with various ocular developmental defects.Semantic proximity Read ↗

Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.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 ↗

Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation.Semantic proximity Read ↗

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