Rapid prenatal diagnosis of Facioscapulohumeral Muscular Dystrophy 1 by combined Bionano optical mapping and karyomapping
Prenatal Diagnosis2019Vol. 40(3), pp. 317–323
Citations Over TimeTop 10% of 2019 papers
Yuting Zheng, Lingrong Kong, Hui Xu, Yongjie Lu, Xuechao Zhao, Yuxia Yang, Guoliang Yu, Pidong Li, Fan Liang, Hongshuai Jin, Xiangdong Kong
Abstract
Bianano optical mapping can determine the number of D4Z4 repeats and exclude interference of the 10q26.3 homologous region, and in combination with karyomapping, can be used for rapid and accurate prenatal diagnosis of FSHD1.
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