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pro vyhledávání: '"Jie-Yi Long"'
Autor:
Zhao-Jing Lin, Jie-Yi Long, Juan Li, Fang-Na Wang, Wei Chu, Lei Zhu, Ya-Li Li, Liang-Liang Fan
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
BackgroundCongenital cataracts stand as the primary cause of childhood blindness globally, characterized by clouding of the eye’s lens at birth or shortly thereafter. Previous investigations have unveiled that a variant in the V-MAF avian musculoap
Externí odkaz:
https://doaj.org/article/d6605ad43acb49169b49942d0e7a6508
Autor:
An-Lei Li, Ji-Qiang He, Lei Zeng, Yi-Qiao Hu, Min Wang, Jie-Yi Long, Si-Hua Chang, Jie-Yuan Jin, Rong Xiang
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder with clinical features of arthrogryposis, arachnodactyly, crumpled ears, scoliosis, and muscular hypoplasia. The heterozygous pathogenic vari
Externí odkaz:
https://doaj.org/article/5f72f968fae544a88c55e3ec19b6168c