Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family.

Lin, Zhi-Bo; Chen, Zhen-Ji; Yang, Hui; Ding, Xing-Ru; Li, Jin; Pan, An-Peng; Sun, Hai-Sen; Yu, A-Yong; Chen, Shi-Hao

Lin, Zhi-Bo; Chen, Zhen-Ji; Yang, Hui; Ding, Xing-Ru; Li, Jin; Pan, An-Peng; Sun, Hai-Sen; Yu, A-Yong; Chen, Shi-Hao.

Afiliación

Lin ZB; National Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China.
Chen ZJ; Oujiang Laboratory, Zhejiang Lab for Regenerative Medicine, Vision and Brain Health, Wenzhou, Zhejiang, China.
Yang H; Department of Ophthalmology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China.
Ding XR; Zhejiang Provincial Clinical Research Center for Pediatric Disease, The Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
Li J; National Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China.
Pan AP; National Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China.
Sun HS; National Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China.
Yu AY; National Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China.
Chen SH; National Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China. csh@eye.ac.cn.

BMC Ophthalmol ; 23(1): 446, 2023 Nov 07.

Article en En | MEDLINE | ID: mdl-37932670

Asunto(s)

Anisometropía; Blefarofimosis; Catarata; Miopía; Humanos; Mutación; Secuenciación del Exoma; Linaje; Síndrome; Proteína Forkhead Box L2/genética

Palabras clave

Anisometropia; BPES; Congenital cataracts; FOXL2; Whole-exome sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Catarata / Anisometropía / Blefarofimosis / Miopía Límite: Humans Idioma: En Revista: BMC Ophthalmol Asunto de la revista: OFTALMOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido

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