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

Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy.

Molecular vision - 28 Apr 2010

Paliwal Preeti, Gupta Jaya, Tandon Radhika, Sharma Namrata, Titiyal Jeewan S, Kashyap Seema, Sen Seema, Kaur Punit, Dube Divya, Sharma Arundhati, Vajpayee Rasik B

Abstract excerpt

PURPOSE: To study the clinical, histological, in vivo confocal microscopic, and molecular profile in a family with gelatinous drop-like corneal dystrophy (GDLD) from north India. METHODS: Two siblings from a consanguineous family presented with clinical features analogous to GDLD. Detailed clinic...

Read the complete abstract on PubMed

Topics

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

Share to Antigens, Neoplasm
Share to Cell Adhesion Molecules
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Microscopy, Confocal

Share to Models, Molecular

Share to Mutation, Missense

Share to Sequence Homology

Source

Open in PubMed Open full text

Identifiers

PMID: 20454699
PMCID: PMC2862246

Genes

TACSTD2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20454699-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy.PMID 20454699Read ↗

Gelatinous drop-like corneal dystrophy with a novel mutation of TACSTD2 manifested in combination with spheroidal degeneration in a Chinese patient.Semantic proximity Read ↗

A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy.Semantic proximity Read ↗

Familial Gelatinous Drop-Like Corneal Dystrophy Caused by a Novel Nonsense TACSTD2 Mutation.Semantic proximity Read ↗

A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy.Semantic proximity Read ↗

Road to a Genetic Model of Gelatinous Drop-Like Corneal Dystrophy.Semantic proximity Read ↗

Four mutations (three novel, one founder) in TACSTD2 among Iranian GDLD patients.Semantic proximity Read ↗

Clinical and basic aspects of gelatinous drop-like corneal dystrophy.Semantic proximity Read ↗

Gelatinous drop-like corneal dystrophy.Semantic proximity Read ↗

A novel missense mutation in a Japanese patient with gelatinous droplike corneal dystrophy.Semantic proximity Read ↗

Chromosomal sharing in atypical cases of gelatinous drop-like corneal dystrophy.Semantic proximity Read ↗

Corneal Opacity Induced by Light in a Mouse Model of Gelatinous Drop-Like Corneal Dystrophy.Semantic proximity Read ↗

A spectrum of clinical manifestations of gelatinous drop-like corneal dystrophy in japan.Semantic proximity Read ↗

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