Fetal Akinesia Deformation Sequence (FADS) with Compound Heterozygous
Variants in MuSK: a Case Report
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