Novel pathogenic splicing mutation in COL11A1 in a patient with Stickler syndrome verified by minigene splicing assay

Novel pathogenic splicing mutation in COL11A1 in a patient with Stickler syndrome verified by minigene splicing assay

BackgroundStickler syndrome (STL) is a group of related connective tissue disorders characterized by heterogeneous clinical presentations with varying degrees of orofacial, ocular, skeletal, and auditory abnormalities. However, this condition is difficult to diagnose on the basis of clinical feature...

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Main Authors: Jie Zhang, Yaxin Huang, Yafei Deng, Xiaochun Yang, Hong Shi, Yuecheng Yang, Tao Lv, Yuanlong Yan, Ming He, Fang Liu
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Genetics
Subjects:
de novo novel splicing variant
whole-exome sequencing
minigene splicing assay
COL11A1 gene
Stickler syndrome
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1642604/full
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https://www.frontiersin.org/articles/10.3389/fgene.2025.1642604/full

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