Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene-Reference-Cited by-同舟云学术

Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene

Published:2020-12-27 Issue:2 Volume:42 Page:161-169
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Kjellström Ulrika¹,Martell Susanne²,Brobeck Cecilia²,Andréasson Sten¹

Affiliation:

1. Department of Clinical Sciences Lund, Ophthalmology, Lund University, Skane University Hospital, Lund, Sweden

2. Department of Oto-Rhino-Laryngology, Helsingborg Hospital, Helsingborg, Sweden

Funder

Medical Faculty, Lund University

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1861309

Reference25 articles.

1. Robin NH, Moran RT, Ala-Kokko L. Stickler Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya, A, editors. Seattle (WA): GeneReviews((R)); 1993.

2. Stickler syndrome: Clinical characteristics and diagnostic criteria

3. Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): A survey

4. Genetics and hearing loss

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