A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation

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Published in:Clinical genetics 2015-02, Vol.87 (2), p.192-195
Main Authors: Yariz, K.O., Sakalar, Y.B., Jin, X., Hertz, J., Sener, E.F., Akay, H., Özbek, M.N., Farooq, A., Goldberg, J., Tekin, M.
Format: Article
Language:English
Subjects:
Adolescent
Atrophy - genetics
Atrophy - pathology
Cell Differentiation - genetics
Child
Child, Preschool
Female
Homeodomain Proteins - genetics
Homozygote
Humans
Macular Degeneration - genetics
Macular Degeneration - pathology
Male
Mutation
Optic Nerve Diseases - genetics
Optic Nerve Diseases - pathology
Retinal Ganglion Cells - pathology
Trans-Activators - genetics
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cited_by cdi_FETCH-LOGICAL-c4614-1dfb945ce2bf484845a666fba43cc6747fd3b7a768291c520321d5d7e6315c6a3
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container_title Clinical genetics
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creator Yariz, K.O.
Sakalar, Y.B.
Jin, X.
Hertz, J.
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Akay, H.
Özbek, M.N.
Farooq, A.
Goldberg, J.
Tekin, M.
description
doi_str_mv 10.1111/cge.12374
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ispartof Clinical genetics, 2015-02, Vol.87 (2), p.192-195
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subjects Adolescent
Atrophy - genetics
Atrophy - pathology
Cell Differentiation - genetics
Child
Child, Preschool
Female
Homeodomain Proteins - genetics
Homozygote
Humans
Macular Degeneration - genetics
Macular Degeneration - pathology
Male
Mutation
Optic Nerve Diseases - genetics
Optic Nerve Diseases - pathology
Retinal Ganglion Cells - pathology
Trans-Activators - genetics
title A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation
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