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

Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.

Genes - 5 Oct 2021

Choi Soon-Il, Woo Se-Joon, Oh Baek-Lok, Han Jinu, Lim Hyun-Taek, Lee Byung-Joo, Joo Kwangsic, Park Jun-Young, Jang Ja-Hyun, So Min-Kyung, Kim Sang-Jin

Abstract excerpt

Stickler syndrome is an inherited connective tissue disorder of collagen. There are relatively few reports of East Asian patients, and no large-scale studies have been conducted in Korean patients yet. In this study, we retrospectively analyzed the genetic characteristics and clinical features of Korean Stickler syndrome patients. Among 37 genetically confirmed Stickler syndrome patients, 21 types of gene...

Read the complete abstract on PubMed

Topics

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

Share to Arthritis
Share to Collagen Type II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type XI

Share to Connective Tissue Diseases

Share to Hearing Loss, Sensorineural

Share to Myopia

Share to Republic of Korea

Share to Retinal Detachment

Source

Open in PubMed Open full text

Identifiers

PMID: 34680973
DOI: 10.3390/genes12101578
PMCID: PMC8536015

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.PMID 34680973Read ↗

Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family.Semantic proximity Read ↗

Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.Semantic proximity Read ↗

Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment.Semantic proximity Read ↗

Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.Semantic proximity Read ↗

A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.Semantic proximity Read ↗

Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment.Semantic proximity Read ↗

Stickler Syndrome.Semantic proximity Read ↗

High Myopia and Strabismus Induced by a Deep Intronic Mutation in COL2A1.Semantic proximity Read ↗

Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations.Semantic proximity Read ↗

Genotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.Semantic proximity Read ↗

Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I.Semantic proximity Read ↗

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.Semantic proximity Read ↗

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