De novo variant in GUCY2D gene causing atypical cone-rod dystrophy in a consanguineous family and literature review

De novo variant in GUCY2D gene causing atypical cone-rod dystrophy in a consanguineous family and literature review

AIM: To analyze the pathogenicity and clinical features of patients in a consanguineous cone-rod dystrophy (CRD) family due to heterozygous variants in the GUCY2D gene. METHODS: Whole exome sequencing was used to screen for pathogenic genes and candidate pathogenic variants were obtained by bioinfor...

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Bibliographic Details
Main Authors: Xin-He Fang, Fa-Yong Ke, Wen-Qing Zou, De-Jun Zhu, Mei-Jiao Ma, Yuan-Yuan Lian, Xue-Li Wu, Rui-Hua Wei, Xun-Lun Sheng
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2025-07-01
Series:International Journal of Ophthalmology
Subjects:
cone-rod dystrophy
gucy2d gene
genetic variants
autosomal dominant
Online Access:http://ies.ijo.cn/en_publish/2025/7/20250708.pdf
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http://ies.ijo.cn/en_publish/2025/7/20250708.pdf

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