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MeSH:(Arachnodactyly/genetics*)

1.A novel splicing acceptor variant of the FBN2 gene contributes to a case of congenital contractural arachnodactyly.

Xiaolan TAN ; Xiangyou LENG ; Dachang TAO ; Yuan YANG ; Yunqiang LIU

Chinese Journal of Medical Genetics 2022;39(5):522-525

2.Pathological variant of FBN2 gene identified in a pedigree affected with congenital contracture arachnodactyly.

Jieqiong WANG ; Yanjie XIA ; Yanan WANG ; Fan YANG ; Xiangdong KONG

Chinese Journal of Medical Genetics 2020;37(5):497-500

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