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A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.
Yariz, K O; Sakalar, Y B; Jin, X; Hertz, J; Sener, E F; Akay, H; Özbek, M N; Farooq, A; Goldberg, J; Tekin, M.
Affiliation
  • Yariz KO; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.
Clin Genet ; 87(2): 192-5, 2015 Feb.
Article in En | MEDLINE | ID: mdl-24702266
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Atrophy / Trans-Activators / Optic Nerve Diseases / Homeodomain Proteins / Macular Degeneration Type of study: Risk_factors_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Language: En Journal: Clin Genet Year: 2015 Document type: Article Affiliation country: Estados Unidos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Atrophy / Trans-Activators / Optic Nerve Diseases / Homeodomain Proteins / Macular Degeneration Type of study: Risk_factors_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Language: En Journal: Clin Genet Year: 2015 Document type: Article Affiliation country: Estados Unidos