Exome sequencing ‐aided precise diagnosis of four families with type I Stickler syndrome

ConclusionThis study broadens theCOL2A1 gene mutation spectrum, provides evidence for ER stress caused by pathogenic COL2A1 mutations and highlights the importance of non-ophthalmological examination in clinical diagnosis of high myopia.

Source: Molecular Genetics & Genomic Medicine - December 11, 2023 Category: Genetics & Stem Cells Authors: Runyi Tian, Ping Tong, Yuhong He, Liyu Zang, Shimin Zhou, Qi Tian Tags: ORIGINAL ARTICLE Source Type: research