Stickler syndrome: Clinical characteristics and diagnostic criteria-Reference-Cited by-同舟云学术

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Stickler syndrome: Clinical characteristics and diagnostic criteria

Published:2005 Issue:3 Volume:138A Page:199-207
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Rose Peter S.,Levy Howard P.,Liberfarb Ruth M.,Davis Joie,Szymko-Bennett Y.,Rubin Benjamin I.,Tsilou Ekaterini,Griffith Andrew J.,Francomano Clair A.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference63 articles.

1. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

2. Prevalence of mitral valve prolapse in Stickler syndrome

3. Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes

4. The Marshall and Stickler syndromes: objective rejection of lumping.

Cited by 112 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Three Familial Cases of Stickler Syndrome: A Case Report;Journal of the Korean Ophthalmological Society;2024-07-15

2. Posterior Precortical Vitreous Pocket in Stickler Syndrome: A Report of Two Cases;Cureus;2024-05-04

3. La sindrome di Stickler;Medico e Bambino;2024-04-24

4. Nonperfusion of the Far Peripheral Retina in Highly Myopic Stickler Syndrome;Journal of VitreoRetinal Diseases;2024-03-13

5. Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report;Ophthalmic Genetics;2024-02

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