Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly

ConclusionThe study is onFBN2 variant in CCA, which potentially having implications for genetic counseling and clinical management, our study may provide new insights into the cause and diagnosis of CCA.

Source: Molecular Genetics & Genomic Medicine - February 27, 2021 Category: Genetics & Stem Cells Authors: Lin Hu, Huanzheng Li, Guang Sun, Ke Wu, Zhaotang Luan, Yanbao Xiang, Shaohua Tang Tags: ORIGINAL ARTICLE Source Type: research