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

An unusual presentation of macular corneal dystrophy associated with uniparental isodisomy and a novel Leu173Pro mutation.

Ophthalmic genetics - 1 Sept 2007

Yellore Vivek S, Sonmez Baris, Chen Michael C, Rayner Sylvia A, Thonar Eugene J, Aldave Anthony J

Abstract excerpt

PURPOSE: To report an unusual phenotype of macular corneal dystrophy (MCDC1) associated with a novel CHST6 mutation transmitted via maternal isodisomy. METHODS: Slit lamp examination of the patient and his parents was performed. DNA was collected from each individual for amplification and sequencing of the CHST6 coding region, as well as exons 4 and 12 of TGFBI. Serum antigenic keratan sulfate (AgKS) levels were...

Read the complete abstract on PubMed

Topics

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

Share to Conserved Sequence
Share to Cornea

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Corneal Dystrophies, Hereditary

Share to Leucine

Share to Mutation, Missense

Share to Proline

Share to Sulfotransferases

Share to Uniparental Disomy

Source

Identifiers

PMID: 17896316
DOI: 10.1080/13816810701407925

Genes

CHST6
TGFBI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An unusual presentation of macular corneal dystrophy associated with uniparental isodisomy and a novel Leu173Pro mutation.PMID 17896316Read ↗

Molecular characterization of CHST6 in Egyptian families with macular corneal dystrophy reveals recurrent and novel variants.Semantic proximity Read ↗

Genetic implications of CHST6 gene mutations and their corneal microstructural changes in macular corneal dystrophy patients.Semantic proximity Read ↗

Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6.Semantic proximity Read ↗

Novel mutations in the CHST6 gene causing macular corneal dystrophy.Semantic proximity Read ↗

Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations.Semantic proximity Read ↗

Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India.Semantic proximity Read ↗

Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India.Semantic proximity Read ↗

Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6.Semantic proximity Read ↗

Molecular genetic analysis of macular corneal dystrophy patients from North India.Semantic proximity Read ↗

Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland.Semantic proximity Read ↗

Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family.Semantic proximity Read ↗

Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene.Semantic proximity Read ↗

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