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Journal Articles (2)

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Investigative Ophthalmology & Visual Science (1)
Translational Vision Science & Technology (1)

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Articles (1)
Genetics (1)

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Eye Anatomy and Disorders (2)
Genetics (2)
Glaucoma (1)
Retina (1)
Translational Research (1)

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autosomal recessive inheritance (1)
cohort studies (1)
electroretinography (1)
eye (1)
family (1)
genetics (1)
glaucoma (1)
glaucoma, congenital (1)
mutation (1)
phenotype (1)

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Articles June 2020

Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes

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Elena Lang; Samuel Koller; Luzy Bähr; Marc Töteberg-Harms; David Atac; Françoise Roulez; Angela Bahr; Katharina Steindl; Silke Feil; Wolfgang Berger; Christina Gerth-Kahlert
TAGS: cohort studies, glaucoma, congenital, whole exome sequencing, glaucoma
Trans. Vis. Sci. Tech.. 2020; 9(7):47. https://doi.org/10.1167/tvst.9.7.47

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Genetics May 2016

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis

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Ajoy Vincent; Judith Ng; Christina Gerth-Kahlert; Erika Tavares; Jason T. Maynes; Thomas Wright; Amit Tiwari; Anupreet Tumber; Shuning Li; James V. M. Hanson; Angela Bahr; Heather MacDonald; Luzy Bähr; Carol Westall; Wolfgang Berger; Frans P. M. Cremers; Anneke I. den Hollander; Elise Héon
TAGS: autosomal recessive inheritance, family, genetics, mutation, phenotype, retinoschisis, eye, relationship - sibling, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2016; 57(6):2637-2646. https://doi.org/10.1167/iovs.15-18281

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Online ISSN: 2164-2591

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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