Reduced penetrance in a large Caucasian pedigree with Stickler syndrome-Reference-Cited by-同舟云学术

Reduced penetrance in a large Caucasian pedigree with Stickler syndrome

Published:2017-01-02 Issue:1 Volume:38 Page:43-50
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Tompson Stuart W.¹,Johnson Charles²,Abbott Diana³,Bakall Benjamin⁴,Soler Vincent⁵,Yanovitch Tammy L.⁶,Whisenhunt Kristina N.¹,Klemm Thomas⁷,Rozen Steve⁷,Stone Edwin M.⁴,Johnson Max²,Young Terri L.¹⁷

Affiliation:

1. Department of Ophthalmology and Visual Sciences, University of Wisconsin – Madison, Madison, Wisconsin, USA

2. Retina Consultants, Ltd., Fargo, North Dakota, USA

3. Department of Biostatistics and Informatics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA

4. Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA

5. Centre de Physiopathologie de Toulouse Purpan, Université Paul Sabatier, Toulouse, France

6. Department of Ophthalmology, Dean McGee Eye Institute, University of Oklahoma, Oklahoma City, Oklahoma, USA

7. Duke-National University of Singapore Graduate Medical School, Singapore

Funder

Centre Hospitalier Universitaire de Toulouse

National Institutes of Health

Fondation de France

Foundation Fighting Blindness

Fondation pour la Recherche Médicale

Research to Prevent Blindness

Duke-National University of Singapore

Publisher

Informa UK Limited

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2016.1275018

Reference40 articles.

1. Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

2. Pierre Robin Sequence in Denmark: A Retrospective Population-Based Epidemiological Study

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