Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family-Reference-Cited by-同舟云学术

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Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family

Published:2002-11 Issue:5 Volume:134 Page:720-727
ISSN:0002-9394
Container-title:American Journal of Ophthalmology
language:en
Short-container-title:American Journal of Ophthalmology

Author:

Donoso Larry A,Edwards Albert O,Frost Arcilee T,Ritter Robert,Ahmad N.Nina,Vrabec Tamara,Rogers Jerry,Meyer David

Publisher

Elsevier BV

Subject

Ophthalmology

Reference26 articles.

1. Clinical and molecular genetics of Stickler syndrome;Snead;J Med Genet,1999

2. Hereditary progressive arthro-ophthalmopathy;Stickler;Mayo Clin Proc,1965

3. [Marshall syndrome—case report];Liska;Klin Oczna,1995

4. Heritable and developmental disorder of connective tissue and bone. Arthritis and allied conditions;Pyeritz,1989

5. COL2A1 exon 2 mutations;Richards;Br J Ophthalmol,2000

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1. Retinal Detachment Prophylaxis for Patients With Stickler Syndrome: A Survey of Pediatric Retinal Specialist Treatment Preferences;Ophthalmic Surgery, Lasers and Imaging Retina;2023-02

2. Rhegmatogenous Retinal Detachments in the Pediatric Population and Special Considerations for Pediatric Vitreoretinal Surgery;A Quick Guide to Pediatric Retina;2021

3. Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review;Ophthalmic Genetics;2020-04-21

4. A novel deep intronic COL2A1 mutation in a family with early‐onset high myopia/ocular‐only Stickler syndrome;Ophthalmic and Physiological Optics;2020-03-20

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