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

Autor: Tian, Runyi, Tong, Ping, He, Yuhong, Zang, Liyu, Zhou, Shimin, Tian, Qi

Publikováno v: Molecular Genetics & Genomic Medicine; Jan2024, Vol. 12 Issue 1, p1-16, 16p

CCDC66 mutations are associated with high myopia through affected cell mitosis.

Autor: Chen X; MOE Key Lab of Rare Pediatric Diseases & Hunan Key Laboratory of Medical Genetics of the School of Life Sciences, Central South University, Changsha, Hunan, People's Republic of China.; Hunan Key Laboratory of Animal Models for Human Disease, Central South University, Changsha, Hunan, People's Republic of China.; Furong Laboratory, Central South University, Changsha, Hunan, People's Republic of China., Tong P; Department of Ophthalmology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China., Jiang Y; MOE Key Lab of Rare Pediatric Diseases & Hunan Key Laboratory of Medical Genetics of the School of Life Sciences, Central South University, Changsha, Hunan, People's Republic of China.; Hunan Key Laboratory of Animal Models for Human Disease, Central South University, Changsha, Hunan, People's Republic of China.; Furong Laboratory, Central South University, Changsha, Hunan, People's Republic of China., Cheng Z; MOE Key Lab of Rare Pediatric Diseases & Hunan Key Laboratory of Medical Genetics of the School of Life Sciences, Central South University, Changsha, Hunan, People's Republic of China.; Hunan Key Laboratory of Animal Models for Human Disease, Central South University, Changsha, Hunan, People's Republic of China.; Furong Laboratory, Central South University, Changsha, Hunan, People's Republic of China., Zang L; MOE Key Lab of Rare Pediatric Diseases & Hunan Key Laboratory of Medical Genetics of the School of Life Sciences, Central South University, Changsha, Hunan, People's Republic of China.; Hunan Key Laboratory of Animal Models for Human Disease, Central South University, Changsha, Hunan, People's Republic of China.; Furong Laboratory, Central South University, Changsha, Hunan, People's Republic of China., Yang Z; Aier Eye Hospital (Hunan), Aier Eye Hospital Group, Changsha, Hunan, People's Republic of China.; Aier School of Ophthalmology, Central South University, Changsha, Hunan, People's Republic of China., Lan W; Aier Eye Hospital (Hunan), Aier Eye Hospital Group, Changsha, Hunan, People's Republic of China.; Aier School of Ophthalmology, Central South University, Changsha, Hunan, People's Republic of China., Xia K; MOE Key Lab of Rare Pediatric Diseases & Hunan Key Laboratory of Medical Genetics of the School of Life Sciences, Central South University, Changsha, Hunan, People's Republic of China.; Hunan Key Laboratory of Animal Models for Human Disease, Central South University, Changsha, Hunan, People's Republic of China.; Furong Laboratory, Central South University, Changsha, Hunan, People's Republic of China.; MOE Key Lab of Rare Pediatric Diseases, Hengyang Medical School, University of South China, Hengyang, Hunan, People's Republic of China., Hu Z; MOE Key Lab of Rare Pediatric Diseases & Hunan Key Laboratory of Medical Genetics of the School of Life Sciences, Central South University, Changsha, Hunan, People's Republic of China.; Hunan Key Laboratory of Animal Models for Human Disease, Central South University, Changsha, Hunan, People's Republic of China.; Furong Laboratory, Central South University, Changsha, Hunan, People's Republic of China., Tian Q; MOE Key Lab of Rare Pediatric Diseases & Hunan Key Laboratory of Medical Genetics of the School of Life Sciences, Central South University, Changsha, Hunan, People's Republic of China tianqi@sklmg.edu.cn.; Hunan Key Laboratory of Animal Models for Human Disease, Central South University, Changsha, Hunan, People's Republic of China.; Furong Laboratory, Central South University, Changsha, Hunan, People's Republic of China.

Publikováno v: Journal of medical genetics [J Med Genet] 2024 Feb 21; Vol. 61 (3), pp. 262-269. Date of Electronic Publication: 2024 Feb 21.