Infantile esotropia in a family with <i>TUBB3</i> mutation associated congenital fibrosis of extraocular muscles.

Jang, Yeonji; Kwak, Eunseo; An, Joon-Yong; Jung, Jae Ho

Infantile esotropia in a family with TUBB3 mutation associated congenital fibrosis of extraocular muscles.

Jang, Yeonji; Kwak, Eunseo; An, Joon-Yong; Jung, Jae Ho.

Afiliación

Jang Y; Department of Ophthalmology, Uijeongbu Eulji Medical Center, Eulji University School of Medicine, Uijeongbu, Gyeonggi-do, Republic of Korea.
Kwak E; School of Biosystems and Biomedical Sciences, College of Health Sciences, Korea University, Seoul, Republic of Korea.
An JY; School of Biosystems and Biomedical Sciences, College of Health Sciences, Korea University, Seoul, Republic of Korea.
Jung JH; Department of Ophthalmology, Seoul National University Hospital, and Seoul National University College of Medicine, Seoul, Republic of Korea.

Ophthalmic Genet ; 43(5): 716-719, 2022 10.

Article en En | MEDLINE | ID: mdl-35765833

Asunto(s)

Esotropía; Oftalmoplejía; Esotropía/genética; Femenino; Fibrosis; Humanos; Mutación; Músculos Oculomotores; Oftalmoplejía/diagnóstico; Oftalmoplejía/genética; Linaje; Estudios Retrospectivos; Tubulina (Proteína)/genética

Palabras clave

Congenital fibrosis of extraocular muscles; Infantile esotropia; Strabismus; Whole-exome sequencing

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Oftalmoplejía / Esotropía Tipo de estudio: Diagnostic_studies / Observational_studies / Risk_factors_studies Límite: Female / Humans Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2022 Tipo del documento: Article

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