Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals <i>CYP1B1</i> and <i>FOXC1</i> Variants as Most Frequent Causes.

Lang, Elena; Koller, Samuel; Bähr, Luzy; Töteberg-Harms, Marc; Atac, David; Roulez, Françoise; Bahr, Angela; Steindl, Katharina; Feil, Silke; Berger, Wolfgang; Gerth-Kahlert, Christina

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

Lang, Elena; Koller, Samuel; Bähr, Luzy; Töteberg-Harms, Marc; Atac, David; Roulez, Françoise; Bahr, Angela; Steindl, Katharina; Feil, Silke; Berger, Wolfgang; Gerth-Kahlert, Christina.

Afiliação

Lang E; Department of Ophthalmology, University Hospital Zurich, University of Zurich, Zurich, Switzerland.
Koller S; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.
Bähr L; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.
Töteberg-Harms M; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.
Atac D; Department of Ophthalmology, University Hospital Zurich, University of Zurich, Zurich, Switzerland.
Roulez F; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.
Bahr A; Department of Ophthalmology, University Hospital Basel, Basel, Switzerland.
Steindl K; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
Feil S; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
Berger W; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.
Gerth-Kahlert C; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.

Transl Vis Sci Technol ; 9(7): 47, 2020 06.

Article em En | MEDLINE | ID: mdl-32832252

Assuntos

Exoma; Glaucoma; Citocromo P-450 CYP1B1/genética; Variações do Número de Cópias de DNA/genética; Fatores de Transcrição Forkhead/genética; Glaucoma/genética; Humanos; Suíça; Sequenciamento do Exoma

Palavras-chave

Axenfeld-Rieger syndrome; CYP1B1; FOXC1; childhood glaucoma; primary congenital glaucoma

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Glaucoma / Exoma Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Humans País/Região como assunto: Europa Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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