Identification of a novel mutation in the FGF10 gene in a Chinese family with obvious congenital lacrimal duct dysplasia in lacrimo-auriculo-dento-digital syndrome

Identification of a novel mutation in the FGF10 gene in a Chinese family with obvious congenital lacrimal duct dysplasia in lacrimo-auriculo-dento-digital syndrome

AIM: To identify the pathogenic gene variant in a family with lacrimo-auriculo-dento-digital syndrome [LADD (MIM 149730)] showing congenital lacrimal duct dysplasia as the main clinical manifestation and lay the foundation for future research on the pathogenic gene. METHODS: Ophthalmological examina...

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Bibliographic Details
Main Authors: Hong-Yang Zhang, Chun-Yan Zhang, Fei Wang, Hai Tao, Ya-Ping Tian, Xi-Bin Zhou, Fang Bai, Peng Wang, Jia-Yi Cui, Min-Jie Zhang, Li-Hua Wang
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2023-04-01
Series:International Journal of Ophthalmology
Subjects:
fgf10 gene
frameshift mutation
congenital lacrimal duct dysplasia
ladd syndrome
pedigree
Online Access:http://ies.ijo.cn/en_publish/2023/4/20230402.pdf

Internet

http://ies.ijo.cn/en_publish/2023/4/20230402.pdf

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