loading page

Fetal Akinesia Deformation Sequence (FADS) with Compound Heterozygous Variants in MuSK: a Case Report
  • +3
  • Lina Ding,
  • Yinong Xie,
  • Tingting Yuan,
  • Zhen Sui,
  • Hongzhou Liu,
  • Zhihua Li
Lina Ding

Corresponding Author:[email protected]

Author Profile
Yinong Xie
Third Affiliated Hospital of Guangzhou Medical College
Author Profile
Tingting Yuan
Third Affiliated Hospital of Guangzhou Medical College
Author Profile
Zhen Sui
Clifford Hospital
Author Profile
Hongzhou Liu
Guangzhou Kingmed Center for Clinical Laboratory Co., Ltd.
Author Profile

Abstract

Fetal Akinesia Deformation Sequence (FADS) is a hereditary disease with a very low incidence, which mainly involves the abnormal development of the musculoskeletal system. we detected a novel compound heterozygous mutation in MuSK related to FADS, which may help to provide more information to the affected couples