Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing.

Türkyilmaz, Ayberk; Kaplan, Aysin Tuba; Öskan Yalçin, Sibel; Sager, Safiye Günes; Simsek, Saban

Türkyilmaz, Ayberk; Kaplan, Aysin Tuba; Öskan Yalçin, Sibel; Sager, Safiye Günes; Simsek, Saban.

Afiliação

Türkyilmaz A; Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Ortahisar, Trabzon, Turkey. ayberkturkyilmaz@gmail.com.
Kaplan AT; Department of Ophthalmology, Kartal Dr. Lütfi Kirdar City Hospital, Istanbul, Turkey.
Öskan Yalçin S; Department of Ophthalmology, Kartal Dr. Lütfi Kirdar City Hospital, Istanbul, Turkey.
Sager SG; Department of Pediatric Neurology, Kartal Dr. Lütfi Kirdar City Hospital, Istanbul, Turkey.
Simsek S; Department of Ophthalmology, Kartal Dr. Lütfi Kirdar City Hospital, Istanbul, Turkey.

Int Ophthalmol ; 43(12): 4573-4583, 2023 Dec.

Article em En | MEDLINE | ID: mdl-37592116

Assuntos

Catarata; Masculino; Feminino; Humanos; Lactente; Sequenciamento do Exoma; Mutação; Fenótipo; Catarata/genética; Catarata/congênito; Linhagem

Palavras-chave

Congenital cataract; DNMBP gene; Molecular genetics; Whole-exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Infant / Male Idioma: En Revista: Int Ophthalmol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Turquia

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