Biallelic <i>RP1</i>-associated retinal dystrophies: Expanding the mutational and clinical spectrum.

Huckfeldt, Rachel M; Grigorian, Florin; Place, Emily; Comander, Jason I; Vavvas, Demetrios; Young, Lucy H; Yang, Paul; Shurygina, Maria; Pierce, Eric A; Pennesi, Mark E

Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum.

Huckfeldt, Rachel M; Grigorian, Florin; Place, Emily; Comander, Jason I; Vavvas, Demetrios; Young, Lucy H; Yang, Paul; Shurygina, Maria; Pierce, Eric A; Pennesi, Mark E.

Afiliação

Huckfeldt RM; Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.
Grigorian F; Casey Eye Institute, Oregon Health & Science University, Portland, OR.
Place E; Department of Ophthalmology, University of Arkansas School of Medicine, Little Rock, AR.
Comander JI; Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.
Vavvas D; Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.
Young LH; Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.
Yang P; Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.
Shurygina M; Casey Eye Institute, Oregon Health & Science University, Portland, OR.
Pierce EA; Casey Eye Institute, Oregon Health & Science University, Portland, OR.
Pennesi ME; S.N. Fyodorov Eye Microsurgery Federal State Institution of the Russian Ministry of Health, Moscow, Russia.

Mol Vis ; 26: 423-433, 2020.

Article em En | MEDLINE | ID: mdl-32565670

Assuntos

Proteínas Associadas aos Microtúbulos/genética; Distrofias Retinianas/genética; Adolescente; Adulto; Alelos; Criança; Estudos de Coortes; Distrofias de Cones e Bastonetes/genética; Análise Mutacional de DNA; Eletrorretinografia; Oftalmopatias Hereditárias/genética; Feminino; Genótipo; Humanos; Amaurose Congênita de Leber/genética; Degeneração Macular/genética; Masculino; Pessoa de Meia-Idade; Mutação; Mutação de Sentido Incorreto; Fenótipo; Distrofias Retinianas/diagnóstico por imagem; Distrofias Retinianas/fisiopatologia; Retinose Pigmentar/genética; Estudos Retrospectivos; Acuidade Visual

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofias Retinianas / Proteínas Associadas aos Microtúbulos Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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