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

Peer review status:ACCEPTED

04 Sep 2020Submitted to Clinical Case Reports
24 Sep 2020Submission Checks Completed
24 Sep 2020Assigned to Editor
04 Oct 2020Reviewer(s) Assigned
28 Oct 2020Review(s) Completed, Editorial Evaluation Pending
28 Oct 2020Editorial Decision: Revise Minor
26 Dec 20201st Revision Received
28 Dec 2020Submission Checks Completed
28 Dec 2020Assigned to Editor
28 Dec 2020Review(s) Completed, Editorial Evaluation Pending
04 Jan 2021Reviewer(s) Assigned
11 Jan 2021Editorial Decision: Accept