Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report-Reference-Cited by-同舟云学术

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Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report

Published:2024-02 Issue:3 Volume:45 Page:313-318
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Boysen Kirstine Bolette¹²^ORCID,Tümer Zeynep²³^ORCID,Bach-Holm Daniella¹²^ORCID,Bisgaard Anne-Marie⁴^ORCID,Kessel Line¹²^ORCID

Affiliation:

1. Department of Ophthalmology, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark

2. Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark

3. Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

4. Department of Paediatrics and Adolescent Medicine, Center for Rare Disease, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

Funder

Fight for Sight, Denmark

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2024.2309700

Reference21 articles.

1. Variation in the Vitreous Phenotype of Stickler Syndrome Can Be Caused by Different Amino Acid Substitutions in the X Position of the Type II Collagen Gly-X-Y Triple Helix

2. Clinical and molecular genetics of Stickler syndrome

3. Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity

4. Dominant Stickler Syndrome

5. A report on 10 new patients with heterozygous mutations in theCOL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies

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