Early onset X-linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene.

van Mazijk, Ralph; Haarman, Annechien E G; Hoefsloot, Lies H; Polling, Jan R; van Tienhoven, Marianne; Klaver, Caroline C W; Verhoeven, Virginie J M; Loudon, Sjoukje E; Thiadens, Alberta A H J; Kievit, Anneke J A

van Mazijk, Ralph; Haarman, Annechien E G; Hoefsloot, Lies H; Polling, Jan R; van Tienhoven, Marianne; Klaver, Caroline C W; Verhoeven, Virginie J M; Loudon, Sjoukje E; Thiadens, Alberta A H J; Kievit, Anneke J A.

Afiliação

van Mazijk R; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
Haarman AEG; Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.
Hoefsloot LH; Department of Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands.
Polling JR; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
van Tienhoven M; Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.
Klaver CCW; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
Verhoeven VJM; Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.
Loudon SE; Department of Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands.
Thiadens AAHJ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
Kievit AJA; Institute of Molecular and Clinical Ophthalmology, University of Basel, Basel, Switzerland.

Hum Mutat ; 43(3): 380-388, 2022 03.

Article em En | MEDLINE | ID: mdl-35001458

Assuntos

Arrestinas; Genes Ligados ao Cromossomo X; Miopia; Arrestinas/genética; Estudos de Coortes; Feminino; Humanos; Mutação; Miopia/diagnóstico; Miopia/genética; Linhagem; Sequenciamento do Exoma

Palavras-chave

Mendelian; atropine; genetics; myopia; refractive error; syndromic myopia

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Arrestinas / Genes Ligados ao Cromossomo X / Miopia Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Holanda

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