<i>PRPH2</i> mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophy.

Daftarian, Narsis; Mirrahimi, Mehraban; Sabbaghi, Hamideh; Moghadasi, Afrooz; Zal, Niloufar; Dehghan Banadaki, Hossein; Ahmadieh, Hamid; Suri, Fatemeh

PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophy.

Daftarian, Narsis; Mirrahimi, Mehraban; Sabbaghi, Hamideh; Moghadasi, Afrooz; Zal, Niloufar; Dehghan Banadaki, Hossein; Ahmadieh, Hamid; Suri, Fatemeh.

Afiliação

Daftarian N; Ocular Tissue Engineering Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Mirrahimi M; Ocular Tissue Engineering Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Sabbaghi H; Ophthalmic Epidemiology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Moghadasi A; Ocular Tissue Engineering Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Zal N; Ophthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Dehghan Banadaki H; Ophthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Ahmadieh H; Ophthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Suri F; Ophthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Ophthalmic Genet ; 40(5): 436-442, 2019 10.

Article em En | MEDLINE | ID: mdl-31618092

Assuntos

Proteínas do Olho/genética; Padrões de Herança/genética; Mutação; Periferinas/genética; Distrofias Retinianas/etiologia; Adulto; Idoso; Feminino; Angiofluoresceinografia; Seguimentos; Fundo de Olho; Humanos; Masculino; Linhagem; Fenótipo; Prognóstico; Distrofias Retinianas/patologia

Palavras-chave

Leber congenital amaurosis (LCA18); PRPH2 gene; central areolar chorioretinal dystrophy; fundus flavimaculatus; macular pattern dystrophy

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Padrões de Herança / Proteínas do Olho / Distrofias Retinianas / Periferinas / Mutação Tipo de estudo: Observational_studies / Prognostic_studies Limite: Adult / Aged / Female / Humans / Male Idioma: En Revista: Ophthalmic Genet Assunto da revista: GENETICA MEDICA / OFTALMOLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Irã

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