Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey.
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Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologistThe Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.Arachnodactyly--a key to diagnosing heritable disorders of connective tissue.A role for epigenetics in hearing: Establishment and maintenance of auditory specific gene expression patterns.Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis PigmentosaRhegmatogenous retinal detachments associated to Stickler syndrome in a tertiary eye care center in Saudi Arabia.Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagenTwo Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in KoreaHearing impairment in Stickler syndrome: a systematic review.Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndromeNovel mutations in the COL2A1 gene in Japanese patients with Stickler syndromeRadiographic and tomographic analysis in patients with stickler syndrome type I.Birth prevalence and initial treatment of Robin sequence in Germany: a prospective epidemiologic study.Recent developments in our understanding of how platelet-derived growth factor (PDGF) and its receptors contribute to proliferative vitreoretinopathy.Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.Syndromes of hearing loss associated with visual loss.Rhegmatogenous retinal detachment in children 16 years of age or youngerLong-term surgical outcomes of retinal detachment in patients with Stickler syndrome.A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literatureStickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations.Osteochondritis dissecans and Osgood Schlatter disease in a family with Stickler syndrome.Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report.Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.Bilateral Asymmetric Rhegmatogenous Retinal Detachment in a Patient with Stickler Syndrome.Pars plana vitrectomy combined with scleral buckle versus pars plana vitrectomy for giant retinal tear
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P2860
Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey.
description
2001 nî lūn-bûn
@nan
2001 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
name
Clinical features of hereditar ...... (Stickler syndrome): a survey.
@ast
Clinical features of hereditar ...... (Stickler syndrome): a survey.
@en
type
label
Clinical features of hereditar ...... (Stickler syndrome): a survey.
@ast
Clinical features of hereditar ...... (Stickler syndrome): a survey.
@en
prefLabel
Clinical features of hereditar ...... (Stickler syndrome): a survey.
@ast
Clinical features of hereditar ...... (Stickler syndrome): a survey.
@en
P2093
P2860
P1433
P1476
Clinical features of hereditar ...... (Stickler syndrome): a survey.
@en
P2093
P2860
P304
P356
10.1097/00125817-200105000-00008
P407
P577
2001-05-01T00:00:00Z
P5875
P6179
1005410432